ClinVar Miner

Submissions for variant NM_004130.4(GYG1):c.609-14C>T

gnomAD frequency: 0.00003  dbSNP: rs199593097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611243 SCV000725041 likely benign not specified 2017-12-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064186 SCV002381134 likely benign Glycogen storage disease XV; Polyglucosan body myopathy type 2 2023-02-10 criteria provided, single submitter clinical testing

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