ClinVar Miner

Submissions for variant NM_006432.5(NPC2):c.190+14G>A

gnomAD frequency: 0.00476  dbSNP: rs189666920
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248498 SCV000311494 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371703 SCV000388523 benign Niemann-Pick disease, type C1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519265 SCV001728104 benign Niemann-Pick disease, type C2 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001528642 SCV001770870 likely benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528642 SCV005212548 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528642 SCV001740722 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528642 SCV001807288 likely benign not provided no assertion criteria provided clinical testing

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