ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.122+19A>T

gnomAD frequency: 0.39118  dbSNP: rs7842714
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000397800 SCV000333320 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000397800 SCV000519359 benign not specified 2016-01-21 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.
Invitae RCV001519989 SCV001728957 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660541 SCV001876510 benign Congenital bile acid synthesis defect 3 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660542 SCV001876511 benign Hereditary spastic paraplegia 5A 2021-07-30 criteria provided, single submitter clinical testing

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