ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.741-152G>A

dbSNP: rs2072310236
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001175223 SCV001338747 pathogenic Bardet-Biedl syndrome 16 no assertion criteria provided research

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