ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1788+1G>C (rs1206116606)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680041 SCV000807480 pathogenic Carpenter syndrome 2 2017-09-01 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 homozygous in an 11-year-old female with syndactyly, intellectual disability, dysmorphisms

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