ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.372C>T (p.Val124=)

gnomAD frequency: 0.00025  dbSNP: rs149599538
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000884332 SCV001027701 likely benign Severe combined immunodeficiency due to CORO1A deficiency 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704264 SCV005215774 likely benign not provided criteria provided, single submitter not provided

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