ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3528G>A (p.Thr1176=)

gnomAD frequency: 0.00008  dbSNP: rs150602021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176360 SCV000228001 uncertain significance not provided 2015-05-06 criteria provided, single submitter clinical testing
Invitae RCV001078845 SCV001126065 likely benign Niemann-Pick disease, type C1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176360 SCV002498357 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003895190 SCV004714705 likely benign NPC1-related disorder 2021-03-09 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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