ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.279G>C (p.Ser93=)

gnomAD frequency: 0.00002  dbSNP: rs562258866
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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 RCV001444520 SCV001647526 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2018-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001444520 SCV002812038 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2021-10-21 criteria provided, single submitter clinical testing

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