ClinVar Miner

Submissions for variant NM_032130.3(FAM186B):c.506-2A>G

gnomAD frequency: 0.00002  dbSNP: rs549662742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Yale Center for Mendelian Genomics, Yale University RCV000662275 SCV000784603 likely pathogenic Nephronophthisis 2015-12-23 no assertion criteria provided literature only

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