ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.158_181+7del

dbSNP: rs2144640849
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420144 SCV001622407 pathogenic Deficiency of guanidinoacetate methyltransferase 2021-05-13 criteria provided, single submitter clinical testing

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