ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.57+7G>A

gnomAD frequency: 0.00001  dbSNP: rs886042901
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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) RCV000354889 SCV000337212 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing
Invitae RCV001463718 SCV001667665 likely benign Niemann-Pick disease, type C1 2023-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967737 SCV004777852 likely benign NPC1-related condition 2022-05-27 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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