ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4438-31T>C

gnomAD frequency: 0.00037  dbSNP: rs147005127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556331 SCV001777893 likely benign not provided 2019-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536177 SCV004748596 benign CC2D2A-related disorder 2019-05-28 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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