ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1377T>A (p.Ala459=)

gnomAD frequency: 0.00007  dbSNP: rs112593082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217676 SCV000270198 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Ala459Ala in Exon 14 of EYA1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 4/10294 of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs112593082).
GeneDx RCV001589113 SCV001823941 likely benign not provided 2020-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485380 SCV002801141 likely benign Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 2022-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003758728 SCV004518659 benign Melnick-Fraser syndrome 2023-06-07 criteria provided, single submitter clinical testing

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