ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)

dbSNP: rs2047665750
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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 Bioinformatics RCV001375047 SCV001439262 likely pathogenic X-linked intellectual disability-short stature-overweight syndrome criteria provided, single submitter case-control

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