ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn)

dbSNP: rs1555971253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624666 SCV000741311 uncertain significance Inborn genetic diseases 2016-02-24 criteria provided, single submitter clinical testing
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001027751 SCV000998768 uncertain significance Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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