ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1007-32G>A

gnomAD frequency: 0.02044  dbSNP: rs79509556
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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 RCV000251306 SCV000311973 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000251306 SCV000700397 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000835090 SCV000976871 likely benign not provided 2018-06-14 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.
Breakthrough Genomics, Breakthrough Genomics RCV000835090 SCV005217782 likely benign not provided criteria provided, single submitter not provided

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