ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)

dbSNP: rs1602520317
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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 RCV001027753 SCV000998770 likely pathogenic Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849458 SCV002106732 association Heart, malformation of 2020-06-13 no assertion criteria provided literature only

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