ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.639+17G>C

gnomAD frequency: 0.00006  dbSNP: rs199791692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001609321 SCV001840510 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495967 SCV002798629 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-11-13 criteria provided, single submitter clinical testing

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