ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)

dbSNP: rs1559054653
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf RCV000766237 SCV000897651 likely pathogenic Ehlers-Danlos syndrome, type 4 2018-11-20 criteria provided, single submitter clinical testing Variants affects a glycine residue of a conserved [Gly-X-Y] collagen triple helix motif.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238201 SCV002010266 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing

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