Submissions for variant NM_016341.4(PLCE1):c.4059C>T (p.Phe1353=)

gnomAD frequency: 0.00977  dbSNP: rs61751499

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244796	SCV000312681	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318155	SCV000366229	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.
Invitae	RCV000959883	SCV001106821	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000959883	SCV002520264	likely benign	not provided	2021-11-20	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294187	SCV002587325	benign	Focal segmental glomerulosclerosis	2021-10-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000318155	SCV002805991	likely benign	Nephrotic syndrome, type 3	2021-10-04	criteria provided, single submitter	clinical testing