ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2974A>G (p.Thr992Ala)

gnomAD frequency: 0.00020  dbSNP: rs368163419
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053632 SCV001217905 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505606 SCV002815021 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2022-04-15 criteria provided, single submitter clinical testing

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