ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.9G>A (p.Arg3=)

gnomAD frequency: 0.00001  dbSNP: rs1471775361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001401586 SCV001603414 likely benign Arginine:glycine amidinotransferase deficiency 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499852 SCV002805123 likely benign Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2021-08-05 criteria provided, single submitter clinical testing

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