ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3364T>C (p.Trp1122Arg) (rs148571882)

Minimum review status:		Collection method:
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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	RCV000597099	SCV000703670	uncertain significance	not provided	2016-11-11	criteria provided, single submitter	clinical testing

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