ClinVar Miner

Submissions for variant NM_015192.4(PLCB1):c.1167+7T>C

gnomAD frequency: 0.00492  dbSNP: rs45466294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117920 SCV000152196 benign not specified 2015-09-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000476245 SCV000435367 likely benign Developmental and epileptic encephalopathy, 12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000476245 SCV000561031 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001545064 SCV001764319 likely benign not provided 2020-12-25 criteria provided, single submitter clinical testing

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