ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) (rs61748627)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219785 SCV000269134 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr5650Ser in Exon 78 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (38/3320) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61748627).
Athena Diagnostics Inc RCV000710436 SCV000840653 benign not provided 2018-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000710436 SCV000969534 benign not provided 2018-05-23 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.
Invitae RCV000710436 SCV001114318 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152169 SCV001313376 benign Usher syndrome, type 2C 2017-07-05 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.

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