ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.943C>T (p.Pro315Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005041389 SCV005679063 uncertain significance Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2024-03-17 criteria provided, single submitter clinical testing

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