ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.141C>A (p.Thr47=)

dbSNP: rs1442811967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000557510 SCV000659561 likely benign Cerebral creatine deficiency syndrome 2023-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000613727 SCV000715331 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003886413 SCV004702986 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GAMT: BP4, BP7

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