ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His)

gnomAD frequency: 0.00373  dbSNP: rs111753827
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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,Mass General Brigham Personalized Medicine RCV000220203 SCV000269137 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Tyr1622His in Exon 22 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (38/3086) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs111753827).
GeneDx RCV000839196 SCV000981082 benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Invitae RCV000839196 SCV001046292 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000839196 SCV001932918 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000839196 SCV001963675 likely benign not provided no assertion criteria provided clinical testing

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