ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.7202T>C (p.Met2401Thr)

gnomAD frequency: 0.00002  dbSNP: rs997831285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876477 SCV002122756 likely benign not provided 2024-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482465 SCV002775806 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-10-25 criteria provided, single submitter clinical testing

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