ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003130982 SCV003808592 uncertain significance Deficiency of guanidinoacetate methyltransferase 2021-05-12 criteria provided, single submitter clinical testing

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