ClinVar Miner

Submissions for variant NM_001378964.1(CDON):c.3459T>C (p.Ser1153=)

gnomAD frequency: 0.00010  dbSNP: rs186048531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002064679 SCV002375257 benign Holoprosencephaly 11 2021-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938306 SCV004755075 benign CDON-related disorder 2019-12-13 criteria provided, single submitter 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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