ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.58-6C>T

gnomAD frequency: 0.00002  dbSNP: rs756180012
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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 RCV001440920 SCV001643837 likely benign Niemann-Pick disease, type C1 2024-01-07 criteria provided, single submitter clinical testing

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