ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6086C>T (p.Pro2029Leu)

gnomAD frequency: 0.00074  dbSNP: rs200854813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427463 SCV001630142 likely benign not provided 2024-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001427463 SCV002319088 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26969326)
Fulgent Genetics, Fulgent Genetics RCV002476751 SCV002799119 likely benign Usher syndrome type 2C; Febrile seizures, familial, 4 2022-05-03 criteria provided, single submitter clinical testing

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