ClinVar Miner

Submissions for variant NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) (rs1553810255)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000656402 SCV000778409 likely pathogenic Mental retardation, autosomal dominant 41 2016-12-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000656402 SCV001521576 uncertain significance Mental retardation, autosomal dominant 41 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000770925 SCV000902424 pathogenic Pierpont syndrome 2019-05-13 no assertion criteria provided literature only

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