ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1470C>T (p.Asn490=)

dbSNP: rs2145447446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001452159 SCV001655814 likely benign Niemann-Pick disease, type C1 2022-08-09 criteria provided, single submitter clinical testing

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