ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.691-15T>C

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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 RCV003633470 SCV004522449 likely benign Ehlers-Danlos syndrome, type 4 2023-02-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003633470 SCV004828588 likely benign Ehlers-Danlos syndrome, type 4 2023-12-18 criteria provided, single submitter clinical testing

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