ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) (rs41303352)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724008 SCV000228649 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222295 SCV000270245 likely benign not specified 2015-07-20 criteria provided, single submitter clinical testing p.Asn1985His in exon 28 of GPR98: This variant is not expected to have clinical significance it has been identified in 0.32% (31/9680) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP r s41303352).
Invitae RCV000724008 SCV001067666 likely benign not provided 2020-11-28 criteria provided, single submitter clinical testing

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