ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys)

gnomAD frequency: 0.00112  dbSNP: rs61751149
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875265 SCV001017562 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001644852 SCV001143697 likely benign not specified 2021-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487923 SCV002803088 likely benign Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2022-01-07 criteria provided, single submitter clinical testing

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