ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.165G>A (p.Thr55=)

gnomAD frequency: 0.00001  dbSNP: rs745425275
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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 RCV002177053 SCV002336723 likely benign Melnick-Fraser syndrome 2021-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498127 SCV002803697 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-08-12 criteria provided, single submitter clinical testing

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