ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3794A>T (p.Glu1265Val) (rs751251790)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000281509	SCV000345904	uncertain significance	not provided	2018-07-25	criteria provided, single submitter	clinical testing

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