ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.406G>A (p.Val136Ile)

gnomAD frequency: 0.00006  dbSNP: rs184074326
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001107662 SCV001264837 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001107662 SCV001625495 likely benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-09-27 criteria provided, single submitter clinical testing

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