ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.639+39T>G

gnomAD frequency: 0.39091  dbSNP: rs3779747
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001612081 SCV001839247 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703134 SCV001933508 benign Otofaciocervical syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703022 SCV001933519 benign Branchiootic syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703021 SCV001933530 benign Branchiootorenal syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001612081 SCV005269022 benign not provided criteria provided, single submitter not provided

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