ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.425-22C>T

gnomAD frequency: 0.02517  dbSNP: rs61884454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245031 SCV000311173 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245031 SCV000518773 benign not specified 2016-01-29 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675640 SCV000801341 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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