ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.-1G>C

gnomAD frequency: 0.00007  dbSNP: rs756433737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001278152 SCV003816049 uncertain significance Niemann-Pick disease, type C2 2021-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278152 SCV001465148 uncertain significance Niemann-Pick disease, type C2 2020-04-18 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945958 SCV004757176 likely benign NPC2-related disorder 2022-09-23 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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