ClinVar Miner

Submissions for variant NM_016341.4(PLCE1):c.2124G>A (p.Val708=)

gnomAD frequency: 0.00975  dbSNP: rs61751496
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243452 SCV000312678 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293995 SCV000366211 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 RCV000243452 SCV000614587 benign not specified 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV002058265 SCV002406009 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV002058265 SCV002575225 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294184 SCV002587494 likely benign Kidney disorder 2019-11-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002058265 SCV003916626 benign not provided 2023-01-01 criteria provided, single submitter clinical testing PLCE1: BP4, BP7, BS1, BS2

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