ClinVar Miner

Submissions for variant NM_001904.4(CTNNB1):c.495+1G>C

dbSNP: rs1559468403
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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 RCV000679960 SCV000807394 pathogenic Severe intellectual disability-progressive spastic diplegia syndrome 2017-09-01 criteria provided, single submitter clinical testing This splice mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory de novo in a 2-year-old male with microcephaly, delays, mixed tone, dysmorphic features.

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