ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val)

dbSNP: rs2107340030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227704 SCV002506786 uncertain significance Atelosteogenesis type III; Spondylocarpotarsal synostosis syndrome; Larsen syndrome 2021-05-14 criteria provided, single submitter clinical testing

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