ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.5599A>T (p.Ser1867Cys)

gnomAD frequency: 0.00002  dbSNP: rs753892104
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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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 RCV001027767 SCV000998785 likely benign Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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