ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1089G>T (p.Ala363=)

dbSNP: rs901122746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001280490 SCV001625409 likely benign Niemann-Pick disease, type C1 2024-02-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280490 SCV001467673 uncertain significance Niemann-Pick disease, type C1 2020-09-04 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003898267 SCV004713638 likely benign NPC1-related disorder 2022-06-02 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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