ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.69+20C>T

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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 RCV003002264 SCV003293053 likely benign Arginine:glycine amidinotransferase deficiency 2024-05-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704875 SCV005212626 likely benign not provided criteria provided, single submitter not provided

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