ClinVar Miner

Submissions for variant NM_032040.5(CCDC8):c.963del (p.Ala323fs)

gnomAD frequency: 0.00004  dbSNP: rs746873023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001283853 SCV004806333 likely pathogenic 3M syndrome 3 2024-03-25 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283853 SCV001469289 likely pathogenic 3M syndrome 3 2020-10-11 no assertion criteria provided clinical testing

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