ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.322-14del

dbSNP: rs201494527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV002054027 SCV000221700 uncertain significance Woodhouse-Sakati syndrome 2024-06-08 criteria provided, single submitter research Downgraded variant due to updated local frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV002054027 SCV002322071 benign Woodhouse-Sakati syndrome 2024-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975246 SCV004787555 benign DCAF17-related disorder 2020-11-02 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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