ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.1496-9T>C

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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 RCV003927054 SCV004738563 benign SCAPER-related disorder 2024-07-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818440 SCV005069292 uncertain significance Optic atrophy 2022-01-01 no assertion criteria provided clinical testing

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