Submissions for variant NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr)

gnomAD frequency: 0.00251  dbSNP: rs75820839

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224413	SCV000280936	uncertain significance	not provided	2015-09-25	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga)	RCV000398322	SCV000345285	benign	not specified	2016-09-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085142	SCV000561040	likely benign	Developmental and epileptic encephalopathy, 12	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311330	SCV000846768	benign	Inborn genetic diseases	2018-09-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV001085142	SCV001303024	likely benign	Developmental and epileptic encephalopathy, 12	2018-01-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV000224413	SCV005050818	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	PLCB1: BS1:Supporting