Submissions for variant NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)

gnomAD frequency: 0.00324  dbSNP: rs150814269

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153050	SCV000202504	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153050	SCV000311742	benign	not specified	2016-04-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000270796	SCV000477670	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	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 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	RCV000514256	SCV000523065	likely benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514256	SCV000609592	likely benign	not provided	2017-04-27	criteria provided, single submitter	clinical testing
Invitae	RCV001085917	SCV000649884	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000514256	SCV001145180	benign	not provided	2019-06-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514256	SCV004156577	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	POMT1: BP4, BP7, BS1