ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.453+8C>T

gnomAD frequency: 0.00007  dbSNP: rs768784430
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Total submissions: 3
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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 RCV000610889 SCV000712935 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing c.453+8C>T in intron 4 of GPR98: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/17014 European chromosomes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs768784430).
Invitae RCV000897500 SCV001041646 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953010 SCV004781134 likely benign ADGRV1-related condition 2020-09-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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