ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.1194C>T (p.Ala398=)

dbSNP: rs2140635956
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002168489 SCV002422075 likely benign Arginine:glycine amidinotransferase deficiency 2024-02-17 criteria provided, single submitter clinical testing

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