ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val) (rs12115566)

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Total submissions: 5
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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,PreventionGenetics RCV000118035 SCV000311748 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331368 SCV000477674 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 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 Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-12-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712821 SCV000843355 benign not provided 2017-11-01 criteria provided, single submitter clinical testing

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