ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)

gnomAD frequency: 0.00001  dbSNP: rs1262933234
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000633584 SCV000754830 likely benign Congenital contractural arachnodactyly 2023-05-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003403450 SCV004122611 uncertain significance not specified 2023-10-09 criteria provided, single submitter clinical testing

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