Total submissions: 26
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000120978 | SCV000168402 | benign | not specified | 2013-10-17 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Eurofins Ntd Llc |
RCV000120978 | SCV000232007 | benign | not specified | 2015-08-24 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083500 | SCV000261219 | benign | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000124962 | SCV000267037 | benign | Hereditary cancer-predisposing syndrome | 2015-12-03 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000179716 | SCV000281279 | likely benign | not provided | 2015-08-26 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Prevention |
RCV000120978 | SCV000302521 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000120978 | SCV000539136 | likely benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband of European ancestry in homozygous state (Verlander 1994). Classified as Benign in ClinVar by GeneDx. MAF 0.4%. |
Genetic Services Laboratory, |
RCV000120978 | SCV000594678 | likely benign | not specified | 2015-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000124962 | SCV000673285 | benign | Hereditary cancer-predisposing syndrome | 2018-09-21 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Counsyl | RCV000667368 | SCV000791802 | likely benign | Fanconi anemia complementation group C | 2017-05-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000179716 | SCV000892896 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | FANCC: BP4, BS2 |
Mendelics | RCV000988215 | SCV001137852 | likely benign | Fanconi anemia complementation group A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000667368 | SCV001329919 | likely benign | Fanconi anemia complementation group C | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Baylor Genetics | RCV000667368 | SCV001522905 | uncertain significance | Fanconi anemia complementation group C | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV000667368 | SCV001653385 | likely benign | Fanconi anemia complementation group C | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000179716 | SCV002010154 | benign | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000120978 | SCV002047091 | benign | not specified | 2021-05-21 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001083500 | SCV002535110 | benign | Fanconi anemia | 2020-10-16 | criteria provided, single submitter | curation | |
ITMI | RCV000120978 | SCV000085146 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genomic Diagnostic Laboratory, |
RCV000120978 | SCV000257632 | uncertain significance | not specified | 2015-07-01 | flagged submission | clinical testing | |
Leiden Open Variation Database | RCV000179716 | SCV001365302 | uncertain significance | not provided | 2020-02-28 | flagged submission | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Department of Pathology and Laboratory Medicine, |
RCV001356570 | SCV001551778 | likely benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | The FANCC p.Asp195Val variant was identified in 2 of 436 proband chromosomes (frequency: 0.005) from individuals or families of northern or eastern European and southern Italian descent with pancreatic cancer and Fanconi Anemia (Verlander 1994, Van Der Heijden 2003). The variant was also identified in the following databases: dbSNP (ID: rs1800365), in the ClinVar database as benign by GeneDx, Emory Genetics, Invitae, Vantari Genetics; as likely benign by Centre for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Prevention Genetics and Laboratory for Molecular Medicine, Partners Health Care Personalized Medicine; and as uncertain significance by Division of Genomic Diagnostics, Children's Hospital of Philadelphia Study Description: and in Clinvitae database as benign by Emyclass. The variant was also listed in the LOVD 3.0 database; however no relevant information was given. The variant was not identified in Cosmic and MutDB. In addition, the variant was identified in the 1000 Genomes Project in 13 of 5000 chromosomes (frequency: 0.003) and the NHLBI GO Exome Sequencing Project in 40 of 8600 European American and in 4 of 4406 African American alleles. The variant was identified in control databases in 842 (4 homozygous) of 277070 chromosomes at a frequency of 0.003 increasing the likelihood this could be a low frequency variant (Genome Aggregation Consortium Feb 27, 2017). Breakdown of observations by population is: European (Non-Finnish) in 568 (3 homozygous) of 126606 chromosomes (freq: 0.004), Ashkenazi Jewish in 36 of 10144 chromosomes (freq: 0.004), South Asian in 107 of 30766 chromosomes (freq: 0.003), Latino in 95 (1 homozygous) of 34412 chromosomes (freq: 0.003), Other in 16 of 6456 chromosomes (freq: 0.001), African in 12 of 24028 chromosomes (freq: 0.0005), and European (Finnish) in 8 of 25788 chromosomes (freq: 0.0003), while not observed in the East Asian population. The p.Asp195 residue is conserved in in mammals but not in more distantly related organisms and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the p.Asp195Val variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant is located with the Fanconi anaemia group C protein functional domain. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we lean towards a more benign role for this variant. This variant is classified as likely benign. | |
Genome Diagnostics Laboratory, |
RCV000179716 | SCV001807888 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000120978 | SCV001927745 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000120978 | SCV001957656 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001083500 | SCV002081244 | benign | Fanconi anemia | 2017-06-14 | no assertion criteria provided | clinical testing |