ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+10G>A

dbSNP: rs71534236
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398968 SCV000331136 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872134 SCV001013906 likely benign Niemann-Pick disease, type C1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001579513 SCV001985596 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579513 SCV001807515 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000398968 SCV001963786 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579513 SCV002033985 likely benign not provided no assertion criteria provided clinical testing

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