ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.1587G>C (p.Leu529=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002512018 SCV002822787 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing FASTKD2: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002512018 SCV004669530 likely benign not provided 2024-03-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025844 SCV005647680 uncertain significance Combined oxidative phosphorylation deficiency 44 2024-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943417 SCV004757426 likely benign FASTKD2-related disorder 2020-03-20 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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