ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.930C>T (p.Ile310=)

dbSNP: rs2140641456
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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 RCV002086456 SCV002420900 likely benign Arginine:glycine amidinotransferase deficiency 2021-11-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500128 SCV002809064 likely benign Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2021-12-26 criteria provided, single submitter clinical testing

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