ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.4986C>T (p.Ala1662=)

gnomAD frequency: 0.00017  dbSNP: rs200905679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219023 SCV002362889 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486838 SCV002795617 likely benign Atelosteogenesis type III; Atelosteogenesis type I; Boomerang dysplasia; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2022-01-06 criteria provided, single submitter clinical testing

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