ClinVar Miner

Submissions for variant NM_000781.3(CYP11A1):c.567G>A (p.Ala189=)

gnomAD frequency: 0.00001  dbSNP: rs770022852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375150 SCV000393931 uncertain significance Congenital Adrenal Insufficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556328 SCV004277508 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing

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