ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.5407A>T (p.Met1803Leu)

gnomAD frequency: 0.00021  dbSNP: rs200677473
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896833 SCV001040944 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000896833 SCV002048629 likely benign not provided 2021-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502624 SCV002807793 likely benign Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2021-12-28 criteria provided, single submitter clinical testing

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