ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp)

dbSNP: rs1688274077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001733848 SCV001984876 likely pathogenic Ehlers-Danlos syndrome, type 4 2021-10-29 criteria provided, single submitter clinical testing

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