ClinVar Miner

Submissions for variant NM_032040.5(CCDC8):c.1455C>T (p.Arg485=)

dbSNP: rs200336737
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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 RCV002150285 SCV002417846 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951145 SCV004762502 likely benign CCDC8-related disorder 2019-11-05 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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