ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn)

dbSNP: rs1554122802
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Clinic, Mersin Women and Children Hospital RCV000515790 SCV000611726 likely pathogenic Congenital contractural arachnodactyly 2017-11-28 criteria provided, single submitter provider interpretation According to Standards and guidelines for the interpretation of sequence results by ACMG (Richards S and Committee 2015) the variant is classified as likely pathogenic [(ii) and (iii); (PS2, PM2, PP2, PP3, PP4)].

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