ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.346C>T (p.Leu116=)

gnomAD frequency: 0.00048  dbSNP: rs138146826
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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 RCV000968635 SCV001116101 likely benign Severe combined immunodeficiency due to CORO1A deficiency 2024-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704380 SCV005215773 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003943177 SCV004761894 likely benign CORO1A-related disorder 2019-02-27 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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