ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)

dbSNP: rs864321628
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV000203551 SCV002559790 likely pathogenic Intellectual disability, X-linked, syndromic 33 2022-08-08 criteria provided, single submitter clinical testing
OMIM RCV000203551 SCV000258598 pathogenic Intellectual disability, X-linked, syndromic 33 2015-12-03 no assertion criteria provided literature only

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