Submissions for variant NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)

gnomAD frequency: 0.01621  dbSNP: rs12115566

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000118035	SCV000152356	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000118035	SCV000311748	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000331368	SCV000477674	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001085455	SCV000649888	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	RCV000712821	SCV000843355	benign	not provided	2017-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000712821	SCV001945140	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing