ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) (rs200945405)

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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 RCV000039572 SCV000063261 likely benign not specified 2016-09-11 criteria provided, single submitter clinical testing p.Gly1148Asp in exon 19 of GPR98: This variant is not expected to have clinical significance because it has been identified in 0.3% (50/16450) of South Asian ch romosomes and 0.2% (149/66614) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200945405).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710447 SCV000226968 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710447 SCV000840666 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000710447 SCV001025543 likely benign not provided 2019-01-08 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504767 SCV000599110 likely pathogenic Usher syndrome 2015-01-01 no assertion criteria provided research

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