ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.463+19A>G

gnomAD frequency: 0.00252  dbSNP: rs117512587
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436680 SCV000513947 likely benign not specified 2015-12-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000614947 SCV001719734 benign Niemann-Pick disease, type C1 2025-01-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614947 SCV000733769 likely benign Niemann-Pick disease, type C1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000614947 SCV000745720 likely benign Niemann-Pick disease, type C1 2017-05-21 no assertion criteria provided clinical testing

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