ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1734G>A (p.Ser578=)

gnomAD frequency: 0.00027  dbSNP: rs770876882
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Total submissions: 2
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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 RCV000609258 SCV000711023 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing p.Ser578Ser in exon 17 of EYA1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.1% (11/9788) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs150410083).
Invitae RCV003594001 SCV001052217 benign Melnick-Fraser syndrome 2023-09-29 criteria provided, single submitter clinical testing

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