Submissions for variant NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=)

gnomAD frequency: 0.42251  dbSNP: rs1046048

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253566	SCV000306609	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000599847	SCV000443358	benign	Heterotaxy, visceral, 4, autosomal	2018-01-12	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253566	SCV000538227	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000599847	SCV000744689	benign	Heterotaxy, visceral, 4, autosomal	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000599847	SCV001721154	benign	Heterotaxy, visceral, 4, autosomal	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000599847	SCV001768976	benign	Heterotaxy, visceral, 4, autosomal	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001668462	SCV001885821	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001668462	SCV005238170	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000599847	SCV000734276	benign	Heterotaxy, visceral, 4, autosomal		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000253566	SCV001920087	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000253566	SCV001954992	benign	not specified		no assertion criteria provided	clinical testing