ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)

gnomAD frequency: 0.00001  dbSNP: rs887755283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626759 SCV000747462 uncertain significance Myopia; Soft skin; Poor wound healing; Striae distensae; Joint hypermobility; Gastroesophageal reflux; Thoracic scoliosis; Spontaneous hematomas 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001270168 SCV001370186 uncertain significance Brittle cornea syndrome 1 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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