ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.240C>T (p.Tyr80=)

gnomAD frequency: 0.00002  dbSNP: rs199715755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616418 SCV000715108 likely benign not specified 2017-01-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000912644 SCV001057757 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392446 SCV004133972 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ORAI1: BP4, BP7

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