ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2088T>C (p.Ala696=)

gnomAD frequency: 0.00015  dbSNP: rs377179697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944579 SCV001090550 likely benign Niemann-Pick disease, type C1 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326520 SCV004033607 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing NPC1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003970639 SCV004780683 likely benign NPC1-related condition 2019-08-29 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).
Natera, Inc. RCV000944579 SCV001463706 likely benign Niemann-Pick disease, type C1 2020-05-04 no assertion criteria provided clinical testing

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