ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val)

gnomAD frequency: 0.00299  dbSNP: rs142013761
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Total submissions: 6
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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 RCV000039603 SCV000063292 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala2032Val in Exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (27/2988) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs142013761).
Eurofins Ntd Llc (ga) RCV000039603 SCV000202822 benign not specified 2014-04-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514078 SCV000610786 likely benign not provided 2017-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000514078 SCV000969513 likely benign not provided 2020-12-30 criteria provided, single submitter clinical testing
Invitae RCV000514078 SCV001103046 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514078 SCV001142937 likely benign not provided 2018-09-14 criteria provided, single submitter clinical testing

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