ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1069+1G>T

dbSNP: rs797045072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191133 SCV000245542 pathogenic Pitt-Hopkins syndrome 2014-07-10 criteria provided, single submitter clinical testing This splice site variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 21-year-old female with severe intellectual disability, seizure disorder, ataxia, self-stimulatory behavior, dysmorphisms, short stature, macrocephaly, obesity

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