ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.78A>G (p.Ala26=)

gnomAD frequency: 0.00015  dbSNP: rs572184134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436311 SCV001639149 likely benign Glycogen storage disease, type VI 2019-03-28 criteria provided, single submitter clinical testing

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