ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.318C>T (p.Thr106=)

dbSNP: rs763613633
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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 RCV002188228 SCV002358090 likely benign Niemann-Pick disease, type C2 2021-05-06 criteria provided, single submitter clinical testing

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