ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5353+19C>T

gnomAD frequency: 0.00179  dbSNP: rs183524866
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125060 SCV000168500 benign not specified 2014-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000125060 SCV000308622 likely benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625169 SCV000743980 benign Congenital contractural arachnodactyly 2017-02-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659625 SCV000781465 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812042 SCV001473135 benign not provided 2023-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625169 SCV002405858 benign Congenital contractural arachnodactyly 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492465 SCV002799292 benign Congenital contractural arachnodactyly; Macular degeneration, early-onset 2022-03-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125060 SCV004038942 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625169 SCV000745932 benign Congenital contractural arachnodactyly 2015-01-27 no assertion criteria provided clinical testing

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