Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152933 | SCV000202363 | benign | not specified | 2014-04-07 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000152933 | SCV000306963 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000343555 | SCV000440139 | benign | Familial hypocalciuric hypercalcemia 1 | 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 rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000405678 | SCV000440140 | benign | Familial hypoparathyroidism | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000299158 | SCV000440141 | benign | Neonatal severe primary hyperparathyroidism | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV000356249 | SCV000440142 | benign | Autosomal dominant hypocalcemia 1 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000152933 | SCV000512484 | benign | not specified | 2017-12-21 | 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. |
Athena Diagnostics Inc | RCV000152933 | SCV000612667 | benign | not specified | 2017-07-17 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000152933 | SCV000711769 | benign | not specified | 2017-06-05 | criteria provided, single submitter | clinical testing | p.Ala996Ser in exon 7 of CASR: This variant is not expected to have clinical sig nificance because it has been identified in 19.5% (3223/16508) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs1801725). |
Ambry Genetics | RCV002336079 | SCV001178781 | benign | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2018-08-30 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Invitae | RCV001510800 | SCV001717931 | benign | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008854 | SCV000029064 | association | Serum calcium level | 2018-07-25 | no assertion criteria provided | literature only | |
Center of Medical Genetics and Primary Health Care | RCV001269361 | SCV001448712 | benign | Malignant tumor of breast | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000152933 | SCV001743934 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000152933 | SCV001929713 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000152933 | SCV001954516 | benign | not specified | no assertion criteria provided | clinical testing |