ClinVar Miner

Submissions for variant NC_000012.12:g.121626882_121626883insT

gnomAD frequency: 0.00381  dbSNP: rs375895928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596834 SCV000706210 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815348 SCV002063076 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ORAI1: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV003767379 SCV004591381 likely benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-02-01 criteria provided, single submitter clinical testing

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