Submissions for variant NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)

gnomAD frequency: 0.00018  dbSNP: rs121912767

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001109988	SCV001267372	benign	Microphthalmia with brain and digit anomalies	2017-12-19	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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000019277	SCV001366989	uncertain significance	Orofacial cleft 11	2019-11-25	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,PP5.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054447	SCV002357407	likely benign	Microphthalmia with brain and digit anomalies; Orofacial cleft 11	2021-12-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003390692	SCV004134140	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	BMP4: BS2
OMIM	RCV000019277	SCV000039565	pathogenic	Orofacial cleft 11	2009-03-01	no assertion criteria provided	literature only