ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs115239207
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham 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).
Eurofins NTD LLC (GA) RCV000725571 SCV000337882 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000725571 SCV000725052 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Invitae RCV000725571 SCV001035419 likely benign not provided 2021-12-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000725571 SCV001923862 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725571 SCV001965816 likely benign not provided no assertion criteria provided clinical testing

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