ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) (rs1555531363)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000590980 SCV000580665 pathogenic Jeune thoracic dystrophy; Joubert syndrome 2017-06-21 no assertion criteria provided research

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