ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.871G>A (p.Val291Met)

gnomAD frequency: 0.00001  dbSNP: rs751747906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000388042 SCV000340132 uncertain significance not provided 2016-03-15 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001028026 SCV001190791 uncertain significance Spondylocarpotarsal synostosis syndrome 2020-02-05 no assertion criteria provided clinical testing

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