ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)

gnomAD frequency: 0.24863  dbSNP: rs2372536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987027 SCV001136208 benign AICA-ribosiduria 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000987027 SCV001775036 benign AICA-ribosiduria 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV002067574 SCV002414636 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972998 SCV004797493 benign ATIC-related condition 2019-10-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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