Submissions for variant NM_001202.6(BMP4):c.455T>C (p.Val152Ala)

gnomAD frequency: 0.44424  dbSNP: rs17563

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178157	SCV000230163	benign	not specified	2014-08-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178157	SCV000307023	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405370	SCV000387012	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000989226	SCV000387013	likely 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000366338	SCV000387014	likely benign	Cleft Lip +/- Cleft Palate, Autosomal Dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000835434	SCV000977225	benign	not provided	2018-05-02	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.
Mendelics	RCV000989226	SCV001139459	benign	Microphthalmia with brain and digit anomalies	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV001515452	SCV001723533	benign	Microphthalmia with brain and digit anomalies; Orofacial cleft 11	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000989226	SCV001775473	benign	Microphthalmia with brain and digit anomalies	2021-07-14	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000178157	SCV001743979	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000178157	SCV001808950	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000178157	SCV001922670	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000178157	SCV001931964	benign	not specified		no assertion criteria provided	clinical testing