ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile)

gnomAD frequency: 0.00095  dbSNP: rs34620645
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308366 SCV000472358 likely benign Glucocorticoid-remediable aldosteronism 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000365375 SCV000472359 likely benign Deficiency of steroid 11-beta-monooxygenase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000422800 SCV000530873 likely benign not specified 2016-08-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000873572 SCV001015585 benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000873572 SCV001143701 benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000873572 SCV005220061 likely benign not provided criteria provided, single submitter not provided

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