ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.570+165G>A

gnomAD frequency: 0.00981  dbSNP: rs74253480
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125193 SCV000168634 benign not specified 2012-11-29 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.
Breakthrough Genomics, Breakthrough Genomics RCV004717012 SCV005308892 benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004717012 SCV005329672 benign not provided 2024-08-01 criteria provided, single submitter clinical testing GAMT: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605328 SCV000733853 benign Deficiency of guanidinoacetate methyltransferase no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125193 SCV001919845 benign not specified no assertion criteria provided clinical testing

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