ClinVar Miner

Submissions for variant NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)

dbSNP: rs1602624950
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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 RCV001027761 SCV000998779 likely pathogenic Intellectual disability, X-linked, syndromic 33 2019-09-23 no assertion criteria provided clinical testing

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