ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.738G>A (p.Gln246=)

gnomAD frequency: 0.00201  dbSNP: rs143729497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000955213 SCV001101906 benign Severe combined immunodeficiency due to CORO1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702072 SCV004146228 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CORO1A: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702072 SCV001931589 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702072 SCV001974537 likely benign not provided no assertion criteria provided clinical testing

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