ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) (rs751129081)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177887 SCV000229840 uncertain significance not provided 2015-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765846 SCV000897242 uncertain significance Usher syndrome, type 2C; Febrile seizures, familial, 4 2018-10-31 criteria provided, single submitter clinical testing

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