ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.255A>T (p.Leu85=)

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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 RCV002605939 SCV003497222 likely benign Severe combined immunodeficiency due to CORO1A deficiency 2023-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898839 SCV004713022 likely benign CORO1A-related disorder 2022-05-17 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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