Submissions for variant NM_001106.4(ACVR2B):c.1075-5C>T

gnomAD frequency: 0.00657  dbSNP: rs115155428

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123527	SCV000166865	benign	not specified	2013-09-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000123527	SCV000306606	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000457393	SCV000443354	benign	Heterotaxy, visceral, 4, autosomal	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.
Invitae	RCV000457393	SCV000558958	benign	Heterotaxy, visceral, 4, autosomal	2024-01-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000457393	SCV000743440	likely benign	Heterotaxy, visceral, 4, autosomal	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000457393	SCV000744687	benign	Heterotaxy, visceral, 4, autosomal	2015-09-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000123527	SCV000861484	likely benign	not specified	2018-06-12	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573737	SCV001800042	likely benign	not provided		no assertion criteria provided	clinical testing