ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.6408del (p.Ser2137fs)

dbSNP: rs80356521
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
OMIM RCV000006767 SCV000026959 pathogenic Spondylocarpotarsal synostosis syndrome 2004-04-01 no assertion criteria provided literature only
GeneReviews RCV000006767 SCV000040880 not provided Spondylocarpotarsal synostosis syndrome no assertion provided literature only

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