Submissions for variant NM_016341.4(PLCE1):c.2214+7C>T

gnomAD frequency: 0.00042  dbSNP: rs201418194

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000330308	SCV000366212	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294256	SCV002587444	likely benign	Kidney disorder	2021-12-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002520648	SCV003244863	benign	not provided	2024-09-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002520648	SCV004127124	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	PLCE1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV002520648	SCV005190932	uncertain significance	not provided		criteria provided, single submitter	not provided