ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC

dbSNP: rs199713263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331817 SCV000407873 uncertain significance Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056650 SCV002449004 benign Niemann-Pick disease, type C1 2024-01-30 criteria provided, single submitter clinical testing

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