ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1826-40G>A

gnomAD frequency: 0.00596  dbSNP: rs187443595
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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 RCV000243493 SCV000311745 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000243493 SCV000700415 benign not specified 2017-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000836020 SCV000977845 benign not provided 2018-06-16 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 RCV000836020 SCV005225934 likely benign not provided criteria provided, single submitter not provided

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