ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.223_293del (p.Arg75fs)

dbSNP: rs1760494153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV001175201 SCV001338725 likely pathogenic Nephronophthisis 19 no assertion criteria provided research

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