ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.644T>A (p.Ile215Asn)

dbSNP: rs2097209399
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001199171 SCV001370167 likely pathogenic Atelosteogenesis type III 2019-02-27 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3,PM6.

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