ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.4263G>A (p.Ser1421=)

gnomAD frequency: 0.05210  dbSNP: rs41291134
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249556 SCV000312682 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280064 SCV000366231 benign Nephrotic syndrome, type 3 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.
Athena Diagnostics Inc RCV000712694 SCV000843214 benign not provided 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000712694 SCV001896364 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV000712694 SCV002483373 benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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