ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+9_1947+10insC

dbSNP: rs1555634683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734823 SCV000862995 benign not specified 2018-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000913200 SCV001058343 likely benign Niemann-Pick disease, type C1 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965554 SCV004777211 likely benign NPC1-related disorder 2021-07-30 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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