ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu)

gnomAD frequency: 0.02108  dbSNP: rs10067636
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039500 SCV000063189 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Phe3347Leu in Exon 47 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 5.8% (166/2862) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs10067636).
GeneDx RCV000039500 SCV000168718 benign not specified 2013-06-06 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 (ga) RCV000039500 SCV000230754 benign not specified 2014-06-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039500 SCV000314845 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710418 SCV000840630 benign not provided 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710418 SCV001103051 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710418 SCV001159040 benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001152993 SCV001314236 benign Usher syndrome type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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