Submissions for variant NM_001202.6(BMP4):c.345C>T (p.Asn115=)

gnomAD frequency: 0.00050  dbSNP: rs143687498

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000946030	SCV001092116	benign	Microphthalmia with brain and digit anomalies; Orofacial cleft 11	2024-01-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001114026	SCV001271850	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001114027	SCV001271851	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). 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.
GeneDx	RCV001578226	SCV001805775	uncertain significance	not provided	2021-06-16	criteria provided, single submitter	clinical testing	Identified in patients with ocular malformation defects and described as likely to be inconsequential in published literature (Bakrania et al., 2008); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 18252212)
Clinical Genetics, Academic Medical Center	RCV001700514	SCV001919023	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001578226	SCV001964876	likely benign	not provided		no assertion criteria provided	clinical testing