ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.747T>C (p.Gly249=)

gnomAD frequency: 0.00001  dbSNP: rs1559054631
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207390 SCV002363078 likely benign Ehlers-Danlos syndrome, type 4 2021-06-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002207390 SCV004831301 likely benign Ehlers-Danlos syndrome, type 4 2023-06-08 criteria provided, single submitter clinical testing

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