ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp)

gnomAD frequency: 0.00763  dbSNP: rs76414987
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000956032 SCV001102774 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479104 SCV002798976 likely benign AICA-ribosiduria 2022-05-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000956032 SCV005243830 benign not provided criteria provided, single submitter not provided

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