ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.802C>T (p.Arg268Cys)

gnomAD frequency: 0.00001  dbSNP: rs1399230018
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001805908 SCV002051640 uncertain significance not provided 2021-03-15 criteria provided, single submitter clinical testing PP2, PM2
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001027743 SCV000998760 likely benign Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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