Submissions for variant NM_194454.3(KRIT1):c.*137del

gnomAD frequency: 0.00138  dbSNP: rs543954194

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000339537	SCV000470418	likely benign	Cerebral cavernous malformation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000401065	SCV000470419	likely benign	Angiokeratoma corporis diffusum with arteriovenous fistulas	2016-06-14	criteria provided, single submitter	clinical testing
New York Genome Center	RCV000339537	SCV002097822	uncertain significance	Cerebral cavernous malformation	2021-01-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000339537	SCV002476235	benign	Cerebral cavernous malformation	2022-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002274999	SCV002563960	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	KRIT1: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV004549820	SCV004742575	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).