ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2096-2del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004729966 SCV005337149 likely pathogenic COL4A1-related disorder 2024-08-15 no assertion criteria provided clinical testing The COL4A1 c.2096-2delA variant is predicted to result in a deletion affecting a canonical splice site. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in COL4A1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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