ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1621-19del (rs571976523)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000248781 SCV000568176 likely benign not specified 2017-07-03 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 Genetic Testing Laboratories,Mayo Clinic RCV000675630 SCV000801331 likely benign not provided 2017-06-15 no assertion criteria provided clinical testing
PreventionGenetics RCV000248781 SCV000311168 benign not specified criteria provided, single submitter clinical testing

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