ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)

dbSNP: rs80356506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276538 SCV002566684 likely pathogenic Connective tissue disorder 2021-01-14 criteria provided, single submitter clinical testing
OMIM RCV000030660 SCV000026962 pathogenic Larsen syndrome 2004-04-01 no assertion criteria provided literature only
GeneReviews RCV000030660 SCV000040870 not provided Larsen syndrome no assertion provided literature only

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