ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.827-2A>G (rs1561461125)

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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 RCV000679985 SCV000807420 pathogenic Congenital contractural arachnodactyly 2017-09-01 criteria provided, single submitter clinical testing This splicesite mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory maternally inherited in a 9-month-old male with delays, micocephaly, pachygyria, joint contractures, mixed tone. Family history unremarkable.

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