ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) (rs181146384)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215787 SCV000270238 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing p.Asp74Asp in Exon 3 of GPR98: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, and it is not located within the splice consensus sequence. This variant has been identified in 0.15% (5/3310) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs181146384).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726477 SCV000344960 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000726477 SCV001603994 likely benign not provided 2019-12-14 criteria provided, single submitter clinical testing

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