ClinVar Miner

Submissions for variant NC_000018.9:g.21124907_21124908insCCGC

dbSNP: rs55809701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125805 SCV002449813 likely benign Niemann-Pick disease, type C1 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003971071 SCV004780926 likely benign NPC1-related disorder 2021-03-19 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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