ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.685A>G (p.Ile229Val)

dbSNP: rs570670146
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662158 SCV000784505 uncertain significance Arginine:glycine amidinotransferase deficiency 2018-03-05 criteria provided, single submitter clinical testing

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