ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.668G>A (p.Gly223Glu)

dbSNP: rs2139460629
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226892 SCV002505788 likely pathogenic Porencephaly 2 2021-08-01 criteria provided, single submitter clinical testing

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