ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.221-2A>G

dbSNP: rs797045946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194923 SCV000248833 pathogenic Senior-Loken syndrome 7 2015-04-29 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760977 SCV000890882 pathogenic Bardet-Biedl syndrome 16 2016-12-29 criteria provided, single submitter clinical testing

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