ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+16del

dbSNP: rs3837910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000625496 SCV003486307 benign Niemann-Pick disease, type C1 2024-02-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625496 SCV000745710 likely benign Niemann-Pick disease, type C1 2016-06-14 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579720 SCV001808239 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579720 SCV001923356 benign not specified no assertion criteria provided clinical testing

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