ClinVar Miner

Submissions for variant NM_000505.4(F12):c.1251-5dup

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002512287 SCV002821339 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing F12: BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002512287 SCV003247157 benign not provided 2023-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004555639 SCV004729928 likely benign F12-related disorder 2019-10-31 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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