ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.745C>T (p.Pro249Ser)

dbSNP: rs1184804915
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269829 SCV001450120 likely pathogenic not provided 2014-11-11 criteria provided, single submitter clinical testing

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