ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3517A>T (p.Thr1173Ser)

dbSNP: rs1554123061
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Total submissions: 1
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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 RCV000659614 SCV000781453 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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