ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003146998 SCV003831372 uncertain significance Distal arthrogryposis type 5D 2021-02-08 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003146998 SCV005438273 likely pathogenic Distal arthrogryposis type 5D 2024-12-18 criteria provided, single submitter clinical testing

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