ClinVar Miner

Submissions for variant NM_000156.6(GAMT):c.581T>C (p.Val194Ala) (rs147739199)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187591 SCV000241186 likely benign not specified 2017-10-26 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.
Invitae RCV001082409 SCV000283682 likely benign Cerebral creatine deficiency syndrome 2020-12-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000187591 SCV000702600 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711735 SCV000842124 likely benign not provided 2019-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719080 SCV000849944 benign History of neurodevelopmental disorder 2016-03-24 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711735 SCV001151585 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001124346 SCV001283288 uncertain significance Deficiency of guanidinoacetate methyltransferase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000711735 SCV001715485 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing

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