Submissions for variant NM_170675.5(MEIS2):c.992GAA[2] (p.Arg333del)

dbSNP: rs879255264

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000494204	SCV000582364	pathogenic	not provided	2023-04-21	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25712757, 30055086, 33091211, 34217350)
Ambry Genetics	RCV001267141	SCV001445322	likely pathogenic	Inborn genetic diseases	2018-04-09	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000494204	SCV001447369	likely pathogenic	not provided	2020-10-23	criteria provided, single submitter	clinical testing
Laboratory of Medical Genetics, University of Torino	RCV000210625	SCV002760104	likely pathogenic	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	2022-11-29	criteria provided, single submitter	research
OMIM	RCV000210625	SCV000266813	pathogenic	Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies	2022-12-19	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000509419	SCV000606929	not provided	MEIS2-related disorder		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.