ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys) (rs1569301036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bondeson Group,Uppsala University RCV000735897 SCV000747901 pathogenic Mental retardation, X-linked, syndromic 33 criteria provided, single submitter research The p.Arg1190Cys variant has been reported in two affected males of a large kindred of 5 generations. The variant is confirmed to segregate with the phenotype in 17 family members of three generations. Female carrier show skewed X-chromosome inactivation.
Genome Medicine,Institute for Basic Research in Developmental Disabilities RCV000735897 SCV000998771 likely pathogenic Mental retardation, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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