ClinVar Miner

Submissions for variant NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV003223462 SCV003918885 uncertain significance Intellectual disability, X-linked 105 criteria provided, single submitter clinical testing
OMIM RCV003223462 SCV004565370 pathogenic Intellectual disability, X-linked 105 2024-02-15 no assertion criteria provided literature only

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