ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.684C>T (p.Pro228=)

dbSNP: rs1251849022
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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 RCV001405910 SCV001607854 likely benign Arginine:glycine amidinotransferase deficiency 2023-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499869 SCV002810207 likely benign Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2021-08-25 criteria provided, single submitter clinical testing

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