Submissions for variant NM_001077365.2(POMT1):c.1826-6C>A

gnomAD frequency: 0.00816  dbSNP: rs140258585

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118033	SCV000152354	benign	not specified	2013-09-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000118033	SCV000311746	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292825	SCV000477673	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000118033	SCV000514253	benign	not specified	2016-03-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000118033	SCV000711700	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	c.1892-6C>A in intron 18 of POMT1: This variant is not expected to have clinical significance because it has been identified in 1.5% (125/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs140258585).
Athena Diagnostics	RCV000712819	SCV000843353	benign	not provided	2018-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086685	SCV001120766	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712819	SCV002498060	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	POMT1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000712819	SCV005225936	likely benign	not provided		criteria provided, single submitter	not provided