Submissions for variant NM_194454.3(KRIT1):c.*132T>G

gnomAD frequency: 0.00138  dbSNP: rs572414111

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000304668	SCV000470420	likely benign	Angiokeratoma corporis diffusum with arteriovenous fistulas	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000364001	SCV000470421	likely benign	Cerebral cavernous malformation	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000364001	SCV001006306	benign	Cerebral cavernous malformation	2022-02-04	criteria provided, single submitter	clinical testing
Mendelics	RCV000364001	SCV001137414	benign	Cerebral cavernous malformation	2019-05-28	criteria provided, single submitter	clinical testing
New York Genome Center	RCV000364001	SCV002097823	uncertain significance	Cerebral cavernous malformation	2021-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002275015	SCV002563961	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	KRIT1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004549821	SCV004729604	likely benign	KRIT1-related disorder	2023-11-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).