ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1168_1244+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324687 SCV004030375 likely pathogenic Choroideremia 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0

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