ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.321T>C (p.Ala107=)

gnomAD frequency: 0.00162  dbSNP: rs112282055
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864836 SCV001005700 benign Melnick-Fraser syndrome 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001570619 SCV001794943 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487900 SCV002800291 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2021-07-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151163 SCV003839495 likely benign not specified 2022-06-13 no assertion criteria provided clinical testing

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