ClinVar Miner

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

dbSNP: rs1555531363
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Total submissions: 2
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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; Familial aplasia of the vermis 2017-06-21 no assertion criteria provided research
OMIM RCV001559337 SCV001781546 pathogenic Short-rib thoracic dysplasia 21 without polydactyly 2021-10-07 no assertion criteria provided literature only

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