ClinVar Miner

Submissions for variant NM_002456.6(MUC1):c.430dup (p.Thr144fs)

dbSNP: rs1667142761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281186 SCV001425107 pathogenic Tubulointerstitial kidney disease, autosomal dominant, 2 2020-02-01 criteria provided, single submitter research

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