ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)

dbSNP: rs754193286
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680527 SCV000807930 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768040 SCV004649346 likely benign Congenital contractural arachnodactyly 2023-05-15 criteria provided, single submitter clinical testing

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