ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) (rs1566349690)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679957 SCV000807391 uncertain significance Porencephaly 1 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 2-year-old female with profound delays, mixed hypo/hypertonia, epilepsy, dysmorphic features, microcephaly, hydrocephalus, Dandy Walker cyst, optic nerve atrophy, cataracts, cortical visual impairment, severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, hemangioma of right eyelid, thrombosis.

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