Submissions for variant NM_018834.6(MATR3):c.1602+6A>G

gnomAD frequency: 0.01434  dbSNP: rs80036770

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245342	SCV000317097	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000527008	SCV000453170	benign	Amyotrophic lateral sclerosis type 21	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.
Athena Diagnostics	RCV000245342	SCV000614053	benign	not specified	2016-11-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000527008	SCV000653838	benign	Amyotrophic lateral sclerosis type 21	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001618490	SCV001843083	benign	not provided	2019-08-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26493020)
Breakthrough Genomics, Breakthrough Genomics	RCV001618490	SCV005226584	likely benign	not provided		criteria provided, single submitter	not provided