ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.518C>T (p.Ala173Val)

dbSNP: rs121908894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318540 SCV004022593 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26491051, 19505475, 15994868, 14991055)
OMIM RCV000006770 SCV000026964 pathogenic Atelosteogenesis type I 2004-04-01 no assertion criteria provided literature only

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