Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000206629 | SCV000616435 | benign | RASopathy | 2017-04-03 | reviewed by expert panel | curation | The filtering allele frequency of the c.2122G>A (p.Ala708Thr) variant in the SOS1 gene is 5.13% for Latino chromosomes by the Exome Aggregation Consortium (633/11554 with 95% CI), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert panel for autosomal dominant RASopathy variants (BA1). |
Laboratory for Molecular Medicine, |
RCV000038529 | SCV000062207 | benign | not specified | 2009-08-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000224003 | SCV000206740 | benign | not provided | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000038529 | SCV000225875 | benign | not specified | 2015-04-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000206629 | SCV000260509 | benign | RASopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000224003 | SCV000281177 | benign | not provided | 2015-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000038529 | SCV000311189 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV001094653 | SCV000430427 | likely benign | Noonan syndrome 4 | 2017-04-28 | 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. |
Illumina Laboratory Services, |
RCV000272488 | SCV000430428 | likely benign | Fibromatosis, gingival, 1 | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Center for Advanced Laboratory Medicine, |
RCV000852769 | SCV000995488 | benign | Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001258236 | SCV001435142 | benign | Joubert syndrome 3 | criteria provided, single submitter | research | The heterozygous p.Ala708Thr variant in SOS1 has only been previously reported in individuals without Noonan syndrome but has been reported in association with Noonan syndrome (PMID: 22585553, 21340158), and has been identified in >5% of Latino chromosomes and 23 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal dominant Noonan syndrome. | |
Gene |
RCV000224003 | SCV001860109 | benign | not provided | 2018-12-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27153395, 21387466, 27535533, 22585553, 21340158) |
Genome Diagnostics Laboratory, |
RCV001813293 | SCV002060640 | benign | Noonan syndrome and Noonan-related syndrome | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415454 | SCV002729928 | benign | Cardiovascular phenotype | 2018-06-01 | 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. |
Fulgent Genetics, |
RCV002496503 | SCV002813134 | benign | Fibromatosis, gingival, 1; Noonan syndrome 4 | 2022-05-03 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000224003 | SCV005238282 | benign | not provided | criteria provided, single submitter | not provided |