ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1417G>A (p.Val473Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. Zeinali's Medical Genetics Lab, Kawsar Human Genetics Research Center RCV004759357 SCV004812913 likely pathogenic Pyruvate kinase deficiency of red cells 2024-03-12 criteria provided, single submitter clinical testing

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