ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.40G>C (p.Val14Leu)

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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 RCV002918231 SCV003255541 benign not provided 2021-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050654 SCV005678862 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-04-02 criteria provided, single submitter clinical testing

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