ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) (rs779065920)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000981963	SCV001129972	likely benign	Niemann-Pick disease type C1	2019-12-31	criteria provided, single submitter	clinical testing

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