ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) (rs373354231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724619 SCV000230822 uncertain significance not provided 2015-03-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222142 SCV000270222 likely benign not specified 2016-04-08 criteria provided, single submitter clinical testing p.Gly3441Gly in exon 49 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 4/66680 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs373354231).

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