ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+8_1947+10dup

dbSNP: rs3837910
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481101 SCV000565327 benign not specified 2016-06-13 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625010 SCV000743485 benign Niemann-Pick disease, type C1 2016-10-19 criteria provided, single submitter clinical testing
Invitae RCV000625010 SCV001717944 benign Niemann-Pick disease, type C1 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972807 SCV004799269 likely benign NPC1-related condition 2021-03-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625010 SCV000745707 likely benign Niemann-Pick disease, type C1 2016-07-14 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000481101 SCV001743462 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000481101 SCV001809644 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700392 SCV001923282 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000481101 SCV001927262 benign not specified no assertion criteria provided clinical testing

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