ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17454+10C>T

gnomAD frequency: 0.00001  dbSNP: rs778501967
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Total submissions: 1
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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 RCV000607774 SCV000731553 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing c.17454+10C>T in intron 80 of GPR98: This variant is not expected to have clinic al significance because it is not located within the splice consensus sequence. It has been identified in 1/50374 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs778501967).

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