ClinVar Miner

Submissions for variant NM_007074.4(CORO1A):c.729T>C (p.Ser243=)

gnomAD frequency: 0.00001  dbSNP: rs2073354742
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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 RCV002187811 SCV002353262 likely benign Severe combined immunodeficiency due to CORO1A deficiency 2021-05-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706291 SCV005215775 likely benign not provided criteria provided, single submitter not provided

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