ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.671G>T (p.Gly224Val) (rs201509408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490441 SCV000267305 uncertain significance Branchiootorenal Syndrome 1 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490441 SCV001047580 likely benign Branchiootorenal Syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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