ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) (rs369910075)

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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 RCV000316660 SCV000340300 uncertain significance not provided 2016-03-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825097 SCV000966351 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Val940Val in exon 15 of GPR98: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/11562 Latino ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs369910075).
Invitae RCV000316660 SCV001105694 likely benign not provided 2017-07-14 criteria provided, single submitter clinical testing

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