ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.937_941del (p.Gly313fs)

dbSNP: rs1568523662
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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 RCV000680121 SCV000807563 pathogenic Pitt-Hopkins syndrome 2017-09-01 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory de novo in a 17-year-old male with intellectual disability, autistic behavior, hypotonis, dysmorphisms, hyperextensibility, joint contractures, scoliosis.

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