ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.961-14T>C

gnomAD frequency: 0.00016  dbSNP: rs199880428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245956 SCV000304017 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002055037 SCV002481786 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-08 criteria provided, single submitter clinical testing

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