ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1597+18T>C

gnomAD frequency: 0.02609  dbSNP: rs76259565
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001713683 SCV001945783 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077153 SCV002425773 benign Melnick-Fraser syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496031 SCV002802912 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-11-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713683 SCV005269010 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700601 SCV001926843 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001700601 SCV001955517 benign not specified no assertion criteria provided clinical testing

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