ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.1765A>G (p.Ile589Val)

dbSNP: rs1602485648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141872 SCV003818914 uncertain significance not provided 2019-06-13 criteria provided, single submitter clinical testing
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001027764 SCV000998782 likely benign Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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