ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.612-4A>G

gnomAD frequency: 0.26001  dbSNP: rs11852395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001794932 SCV002033116 benign Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716827 SCV005289005 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003976188 SCV004798037 benign SCAPER-related disorder 2019-10-17 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).

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