ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.147-111A>T

gnomAD frequency: 0.99970  dbSNP: rs4672766
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553929 SCV001775035 benign AICA-ribosiduria 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709105 SCV005243817 benign not provided criteria provided, single submitter not provided

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