ClinVar Miner

Submissions for variant NM_001378964.1(CDON):c.2432G>A (p.Arg811His)

gnomAD frequency: 0.00016  dbSNP: rs200008378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065530 SCV002390947 likely benign Holoprosencephaly 11 2023-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968071 SCV004781443 likely benign CDON-related disorder 2023-05-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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