ClinVar Miner

Submissions for variant NM_001482.3(GATM):c.1186C>A (p.Arg396Ser)

gnomAD frequency: 0.00001  dbSNP: rs1183535332
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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 RCV001347166 SCV001541414 uncertain significance Arginine:glycine amidinotransferase deficiency 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005857 SCV005630784 uncertain significance Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1 2024-05-13 criteria provided, single submitter clinical testing

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