ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.642G>C (p.Gln214His)

dbSNP: rs2468995255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004584565 SCV002578105 uncertain significance See cases 2021-12-08 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2

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