ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6560C>G (p.Pro2187Arg)

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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 RCV001198859 SCV001369854 uncertain significance Hypertelorism; Broad hallux; Broad thumb; Preaxial foot polydactyly; Single transverse palmar crease; Facial asymmetry; Auricular pit 2020-03-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP2,BP4. This variant was detected in heterozygous state.

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