ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe)

gnomAD frequency: 0.00010  dbSNP: rs141681122
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384444 SCV000332246 uncertain significance not provided 2015-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000384444 SCV001402025 likely benign not provided 2024-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479998 SCV002789768 uncertain significance Usher syndrome type 2C; Febrile seizures, familial, 4 2021-07-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000384444 SCV004227099 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing PM2_supporting

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