ClinVar Miner

Submissions for variant NM_001286577.2(C2CD3):c.195G>C (p.Trp65Cys)

dbSNP: rs1590991247
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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 RCV000984980 SCV004806802 uncertain significance Orofaciodigital syndrome type 14 2024-03-26 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000984980 SCV001132904 uncertain significance Orofaciodigital syndrome type 14 2019-08-25 no assertion criteria provided clinical testing

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