ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3691-6T>C

dbSNP: rs1187330689
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536267 SCV001005976 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-02-04 criteria provided, single submitter clinical testing

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