ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=)

dbSNP: rs1016578152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119570 SCV002397100 likely benign Ehlers-Danlos syndrome, type 4 2024-01-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002119570 SCV004823009 likely benign Ehlers-Danlos syndrome, type 4 2023-04-27 criteria provided, single submitter clinical testing

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