ClinVar Miner

Submissions for variant NM_024928.5(STN1):c.469G>T (p.Asp157Tyr)

dbSNP: rs765462548
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000417070 SCV000494619 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 2 2017-02-10 no assertion criteria provided literature only

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