ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1698+10C>A

gnomAD frequency: 0.00029  dbSNP: rs184131819
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000712816 SCV000703328 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000595892 SCV000725716 likely benign not specified 2017-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics RCV000712816 SCV000843350 likely benign not provided 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV001087695 SCV001097603 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

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