ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) (rs146954342)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221347 SCV000270242 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr1691Met in Exon 23 of GPR98: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (11/3156) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs146954342).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726030 SCV000341346 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000221347 SCV000602441 likely benign not specified 2016-11-02 criteria provided, single submitter clinical testing
Invitae RCV000726030 SCV001041315 likely benign not provided 2020-11-14 criteria provided, single submitter clinical testing

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