ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)

dbSNP: rs886039809
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Total submissions: 2
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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 RCV000256462 SCV000322792 pathogenic Joubert syndrome and related disorders no assertion criteria provided research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985174 SCV001133183 likely pathogenic Joubert syndrome 23 2019-09-26 no assertion criteria provided clinical testing

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