ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.1159+19A>G

dbSNP: rs187979088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426823 SCV000519140 likely benign not specified 2017-10-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064951 SCV002324406 likely benign Arginine:glycine amidinotransferase deficiency 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502507 SCV002808584 likely benign Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2022-04-14 criteria provided, single submitter clinical testing

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