ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro)

gnomAD frequency: 0.04177  dbSNP: rs72554624
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173357 SCV000224459 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350622 SCV000474723 benign Hereditary spastic paraplegia 5A 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001082705 SCV000559864 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000173357 SCV000729910 benign not specified 2017-06-12 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.
Athena Diagnostics Inc RCV000713476 SCV000844088 benign not provided 2018-01-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847801 SCV002104558 benign Hereditary spastic paraplegia 2021-11-12 criteria provided, single submitter clinical testing

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