ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1140+11A>T

dbSNP: rs759981657
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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 RCV002103610 SCV002396437 likely benign Melnick-Fraser syndrome 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499957 SCV002807696 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-11-09 criteria provided, single submitter clinical testing

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