Submissions for variant NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)

gnomAD frequency: 0.00280  dbSNP: rs138801821

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202696	SCV000257837	benign	not specified	2015-06-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000202696	SCV000337310	benign	not specified	2015-11-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276420	SCV000451656	benign	Brachydactyly	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	RCV000873737	SCV001015792	likely benign	Brachydactyly type A2; Acromesomelic dysplasia 3	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430759	SCV004152987	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	BMPR1B: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003937763	SCV004753816	benign	BMPR1B-related condition	2019-12-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).