ClinVar Miner

Submissions for variant NM_003011.4(SET):c.244T>G (p.Trp82Gly)

dbSNP: rs1554776500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000678249 SCV000804272 pathogenic Intellectual disability, autosomal dominant 58 2022-04-29 no assertion criteria provided literature only
Solve-RD Consortium RCV000678249 SCV005091272 likely pathogenic Intellectual disability, autosomal dominant 58 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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