ClinVar Miner

Submissions for variant NM_032790.4(ORAI1):c.786T>C (p.Val262=)

gnomAD frequency: 0.02969  dbSNP: rs3825174
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433427 SCV000516473 benign not specified 2016-05-13 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 RCV000553802 SCV000655307 benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707223 SCV005234442 benign not provided criteria provided, single submitter not provided

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