ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+7C>G

dbSNP: rs56394541
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424918 SCV001627526 likely benign Niemann-Pick disease, type C1 2024-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900461 SCV004709070 likely benign NPC1-related disorder 2022-08-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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