ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.-6T>G

gnomAD frequency: 0.00840  dbSNP: rs62620173
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252534 SCV000311724 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169103 SCV001331749 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001698662 SCV001916751 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001698662 SCV005225908 likely benign not provided criteria provided, single submitter not provided

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