ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3477+19T>C

gnomAD frequency: 0.00019  dbSNP: rs375942184
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000615954 SCV000743479 benign Niemann-Pick disease, type C1 2017-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000615954 SCV002357238 likely benign Niemann-Pick disease, type C1 2025-01-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615954 SCV000733752 likely benign Niemann-Pick disease, type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000615954 SCV000745694 likely benign Niemann-Pick disease, type C1 2017-05-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700239 SCV001921126 benign not specified no assertion criteria provided clinical testing

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