ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr)

dbSNP: rs2128904607
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273491 SCV002558299 likely pathogenic not provided 2022-01-28 criteria provided, single submitter clinical testing Published functional studies demonstrate this variant may cause skipping of exon 12 (Okada et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16491411, 25525159, 24586880, 21288883)

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