ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.127-14T>C

gnomAD frequency: 0.00007  dbSNP: rs764597107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002100224 SCV002386702 likely benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2023-06-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002100224 SCV002798015 likely benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2021-09-28 criteria provided, single submitter clinical testing

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