Submissions for variant NM_000271.5(NPC1):c.-22A>C

gnomAD frequency: 0.08768  dbSNP: rs2303880

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248279	SCV000303365	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625296	SCV000407892	benign	Niemann-Pick disease, type C1	2018-01-12	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.
Genome-Nilou Lab	RCV000625296	SCV001737990	benign	Niemann-Pick disease, type C1	2021-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000675585	SCV001880931	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675585	SCV000801276	benign	not provided	2015-12-16	no assertion criteria provided	clinical testing