ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1486+9G>A

gnomAD frequency: 0.00006  dbSNP: rs547775333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726328 SCV000343812 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing
GeneDx RCV000319136 SCV000723616 likely benign not specified 2017-10-13 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.
Invitae RCV001395375 SCV001597085 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing

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