ClinVar Miner

Submissions for variant NC_000012.12:g.121626894C>T

gnomAD frequency: 0.00001  dbSNP: rs1305999158
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461839 SCV001665748 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2023-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394065 SCV004133971 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing ORAI1: BP4, BP7

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