ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1195-5C>T

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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 RCV003524306 SCV004266002 likely benign Ehlers-Danlos syndrome, type 4 2024-02-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003524306 SCV004818821 likely benign Ehlers-Danlos syndrome, type 4 2024-04-25 criteria provided, single submitter clinical testing

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