Submissions for variant NM_006580.4(CLDN16):c.114+10T>C

gnomAD frequency: 0.18734  dbSNP: rs1491994

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244453	SCV000311539	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399824	SCV000442576	benign	Primary hypomagnesemia	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000244453	SCV000711933	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	c.324+10T>C in intron 1 of CLDN16: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 25.12% (16730/66596) of European chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1491994) .
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509688	SCV001716528	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000399824	SCV001806690	benign	Primary hypomagnesemia	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001509688	SCV001895374	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001509688	SCV005305380	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244453	SCV001926485	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244453	SCV001960090	benign	not specified		no assertion criteria provided	clinical testing