ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) (rs115239207)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217397 SCV000270224 likely benign not specified 2015-09-08 criteria provided, single submitter clinical testing p.Pro352Pro in Exon 7 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 17/66708 European ch romosomes and 5/11576 Latino chromosomes by the Exome Aggregation Consortium (Ex AC, http://exac.broadinstitute.org; dbSNP rs115239207).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725571 SCV000337882 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000217397 SCV000725052 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000725571 SCV001035419 likely benign not provided 2020-08-20 criteria provided, single submitter clinical testing

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