ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2803_2805del (p.Lys935del)

dbSNP: rs746556063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278760 SCV002566831 uncertain significance Connective tissue disorder 2022-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025756 SCV005661386 uncertain significance Cranioectodermal dysplasia 1 2024-05-09 criteria provided, single submitter clinical testing

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