ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.1146T>C (p.Gly382=)

gnomAD frequency: 0.00024  dbSNP: rs201734831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960613 SCV001107610 benign Severe combined immunodeficiency due to CORO1A deficiency 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001699481 SCV005289086 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699481 SCV001927034 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726393 SCV001968140 benign not specified no assertion criteria provided clinical testing

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