ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003081814 SCV003466857 benign Ehlers-Danlos syndrome, classic type, 1 2022-02-02 criteria provided, single submitter clinical testing

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