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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV001570619 SCV005221647 likely benign not provided criteria provided, single submitter not provided
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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