Submissions for variant NM_031443.4(CCM2):c.804-5C>T

gnomAD frequency: 0.00232  dbSNP: rs145003686

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000711049	SCV000841376	benign	not provided	2018-05-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001001577	SCV001012699	benign	Cerebral cavernous malformation 2	2024-01-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001577	SCV001158975	benign	Cerebral cavernous malformation 2	2023-06-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711049	SCV004156864	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	CCM2: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003928179	SCV004741929	likely benign	CCM2-related disorder	2021-04-28	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).
Clinical Genetics, Academic Medical Center	RCV000711049	SCV001918039	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727796	SCV001969125	benign	not specified		no assertion criteria provided	clinical testing