ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2514+3A>C (rs1567951514)

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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	RCV000731292	SCV000859092	uncertain significance	not provided	2018-01-09	criteria provided, single submitter	clinical testing

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