ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2455C>A (p.Arg819Ser) (rs762226042)

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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	RCV000383478	SCV000340965	uncertain significance	not provided	2016-03-29	criteria provided, single submitter	clinical testing

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