ClinVar Miner

Submissions for variant NC_000012.12:g.121626754G>T

gnomAD frequency: 0.00033  dbSNP: rs868908978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890819 SCV001034592 benign Combined immunodeficiency due to ORAI1 deficiency; Myopathy, tubular aggregate, 2 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392679 SCV004133969 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing ORAI1: BS1

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