ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.393C>T (p.Cys131=)

dbSNP: rs2140646762
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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 RCV001412604 SCV001614694 likely benign Arginine:glycine amidinotransferase deficiency 2019-07-29 criteria provided, single submitter clinical testing

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