ClinVar Miner

Submissions for variant NM_014305.4(TGDS):c.457-2A>G

dbSNP: rs1888779255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHU Sainte-Justine Research Center, University of Montreal RCV002810053 SCV003761487 likely pathogenic Catel-Manzke syndrome 2021-02-17 criteria provided, single submitter clinical testing Compound heterozygous with NM_014305.3:c.305C>T

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