ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.*41T>C

gnomAD frequency: 0.88174  dbSNP: rs3739495
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244228 SCV000311722 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408356 SCV000477681 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001610681 SCV001838286 benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789284 SCV002031780 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789283 SCV002031781 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000408356 SCV002031782 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610681 SCV005316792 benign not provided criteria provided, single submitter not provided

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