ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.792G>A (p.Leu264=)

gnomAD frequency: 0.00022  dbSNP: rs139024575
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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 RCV000651711 SCV000773565 likely benign Severe combined immunodeficiency due to CORO1A deficiency 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953186 SCV004768017 likely benign CORO1A-related disorder 2019-07-15 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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