ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14433G>A (p.Pro4811=)

gnomAD frequency: 0.00006  dbSNP: rs373038870
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Total submissions: 2
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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 RCV000825103 SCV000966357 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro4811Pro in exon 70 of GPR98: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/7058 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs373038870).
Invitae RCV002061141 SCV002445975 likely benign not provided 2023-09-04 criteria provided, single submitter clinical testing

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