ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.1201C>T (p.Leu401=)

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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 RCV003619061 SCV004549743 likely benign Arginine:glycine amidinotransferase deficiency 2023-06-14 criteria provided, single submitter clinical testing

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