ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2352G>C (p.Gly784=)

gnomAD frequency: 0.00004  dbSNP: rs140103678
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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 RCV002168280 SCV002423245 likely benign Niemann-Pick disease, type C1 2024-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749863 SCV005358590 likely benign NPC1-related disorder 2021-11-12 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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