Submissions for variant NM_006432.5(NPC2):c.363+7G>A

gnomAD frequency: 0.00093  dbSNP: rs200463204

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375313	SCV000388520	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000593664	SCV000702243	likely benign	not specified	2016-09-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000611646	SCV001120778	benign	Niemann-Pick disease, type C2	2025-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579721	SCV005432928	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	NPC2: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611646	SCV000733399	likely benign	Niemann-Pick disease, type C2		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000611646	SCV001461632	benign	Niemann-Pick disease, type C2	2020-04-18	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579721	SCV001808240	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579721	SCV001976057	likely benign	not provided		no assertion criteria provided	clinical testing