ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.979-18dup

dbSNP: rs202176047
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187590 SCV000241185 benign not specified 2014-04-15 criteria provided, single submitter clinical testing The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002054202 SCV002360429 benign Arginine:glycine amidinotransferase deficiency 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500572 SCV002812501 likely benign Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2021-11-11 criteria provided, single submitter clinical testing

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