ClinVar Miner

Submissions for variant NM_015692.5(CPAMD8):c.639C>T (p.His213=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923268 SCV003267058 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002923268 SCV004143318 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CPAMD8: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003936414 SCV004763296 benign CPAMD8-related disorder 2019-02-22 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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