ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+11_1947+12insGGGT

dbSNP: rs1555634668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002133959 SCV002453543 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418394 SCV004140860 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NPC1: BS2
PreventionGenetics, part of Exact Sciences RCV003958875 SCV004771366 likely benign NPC1-related disorder 2021-03-16 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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