ClinVar Miner

Submissions for variant NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) (rs778360818)

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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 RCV000415031 SCV000492693 likely pathogenic Cleft of soft palate; Talipes equinovarus; Femoral bowing; Radial bowing; Ulnar bowing; Short femur; Aplasia/hypoplasia of the femur; Bowing of the long bones; Camptodactyly 2015-11-16 criteria provided, single submitter clinical testing

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