ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val) (rs1554781700)

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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 RCV000626600 SCV000747301 likely pathogenic Inguinal hernia; Cataract (disease); Abnormally lax or hyperextensible skin; Soft skin; Bruising susceptibility; Mitral valve prolapse; Gastroesophageal reflux; Pneumothorax; Difficulty walking; Patellar dislocation; Constrictive median neuropathy; Pain; Developmental dysplasia of the hip 2017-01-01 criteria provided, single submitter clinical testing

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