ClinVar Miner

Submissions for variant NC_000012.12:g.121641187G>A

gnomAD frequency: 0.00001  dbSNP: rs782232478
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002147800 SCV002421456 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-07-23 criteria provided, single submitter clinical testing

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