ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2911+10C>T

gnomAD frequency: 0.00008  dbSNP: rs370382673
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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) RCV000730140 SCV000857855 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Invitae RCV001454222 SCV001657943 likely benign Niemann-Pick disease, type C1 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953311 SCV004771358 likely benign NPC1-related disorder 2023-02-15 criteria provided, single submitter 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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