ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.1002C>T (p.Ile334=)

dbSNP: rs377351892
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939351 SCV001085193 likely benign Severe combined immunodeficiency due to CORO1A deficiency 2023-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584828 SCV005075379 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CORO1A: BP4, BP7

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