ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+14_1947+15insC

gnomAD frequency: 0.00371  dbSNP: rs201170241
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318061 SCV000407870 likely benign Niemann-Pick disease, type C 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591446 SCV000700542 uncertain significance not provided 2017-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000591446 SCV001794159 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056649 SCV002344105 benign Niemann-Pick disease, type C1 2025-02-02 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699456 SCV001918105 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000591446 SCV001963075 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000591446 SCV001978328 likely benign not provided no assertion criteria provided clinical testing

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