ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)

dbSNP: rs2128948223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272754 SCV002556911 likely pathogenic Branchiootorenal syndrome 1 2021-06-10 criteria provided, single submitter clinical testing

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