ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.810G>A (p.Val270=)

gnomAD frequency: 0.00003  dbSNP: rs187005834
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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 RCV002633271 SCV003514457 likely benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002633271 SCV005676214 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2024-02-21 criteria provided, single submitter clinical testing

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