ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.423_424insGA (p.Lys142fs) (rs1555641037)

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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 RCV000591133 SCV000704853 pathogenic not provided 2016-12-27 criteria provided, single submitter clinical testing

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