ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.1739G>T (p.Gly580Val)

dbSNP: rs2097257677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001169838 SCV001245054 likely pathogenic Atelosteogenesis type III criteria provided, single submitter clinical testing De novo variant. Maternity or paternity not confirmed.

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