ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1853+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280293 SCV002568316 likely pathogenic Bardet-Biedl syndrome 16 2022-04-28 criteria provided, single submitter clinical testing PVS1, PM2

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