ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg)

dbSNP: rs28937587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508566 SCV000603755 likely pathogenic not specified 2017-01-30 criteria provided, single submitter clinical testing
OMIM RCV000006773 SCV000026967 pathogenic Atelosteogenesis type III 2004-04-01 no assertion criteria provided literature only

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