Submissions for variant NM_194454.3(KRIT1):c.1095A>G (p.Gly365=)

gnomAD frequency: 0.00238  dbSNP: rs143710815

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253123	SCV000316887	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401398	SCV000470442	likely benign	Cerebral cavernous malformation	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000315082	SCV000470443	benign	Angiokeratoma corporis diffusum with arteriovenous fistulas	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000401398	SCV000744226	benign	Cerebral cavernous malformation	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000401398	SCV000766123	benign	Cerebral cavernous malformation	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000721819	SCV000885642	benign	not provided	2023-11-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000721819	SCV001942669	likely benign	not provided	2019-05-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450786	SCV002736393	likely benign	Inborn genetic diseases	2022-04-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000721819	SCV005093782	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ENSG00000289027: BS2; KRIT1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000721819	SCV005221029	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000253123	SCV001921545	benign	not specified		no assertion criteria provided	clinical testing