ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1473+48dup

gnomAD frequency: 0.26150  dbSNP: rs398050192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249769 SCV000311543 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807177 SCV002054680 benign Bardet-Biedl syndrome 16 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV004577327 SCV002054681 benign Senior-Loken syndrome 7 2021-07-15 criteria provided, single submitter clinical testing

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