Submissions for variant NM_001202.6(BMP4):c.860G>A (p.Arg287His)

gnomAD frequency: 0.00082  dbSNP: rs121912768

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000644620	SCV000766322	benign	Microphthalmia with brain and digit anomalies; Orofacial cleft 11	2025-01-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000989225	SCV001139458	likely benign	Microphthalmia with brain and digit anomalies	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000019278	SCV001268162	likely benign	Orofacial cleft 11	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000989225	SCV001268163	benign	Microphthalmia with brain and digit anomalies	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM	RCV000019278	SCV000039566	pathogenic	Orofacial cleft 11	2009-03-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV003934842	SCV004751946	likely benign	BMP4-related disorder	2019-03-14	no assertion criteria provided	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).