ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00428  dbSNP: rs138988481
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967982 SCV001115409 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489395 SCV002803587 likely benign AICA-ribosiduria 2021-07-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000967982 SCV005243816 benign not provided criteria provided, single submitter not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252418 SCV001428174 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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