ClinVar Miner

Submissions for variant NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) (rs371584776)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000511478 SCV000608281 uncertain significance Lethal osteosclerotic bone dysplasia no assertion criteria provided clinical testing Variant c.1680C>A (p.C560X) has not been reported in 1000 genomes and ExAC databases. The in silico prediction of this variant is damaging by MutationTaster2.

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