ClinVar Miner

Submissions for variant NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=)

gnomAD frequency: 0.00605  dbSNP: rs5310
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000891434 SCV001035253 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000891434 SCV002064241 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000891434 SCV005220071 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271154 SCV001452026 benign Corticosterone methyl oxidase type II deficiency 2020-09-16 no assertion criteria provided clinical testing

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