Total 3 pathogenic variants reported for Oromandibular-limb hypogenesis spectrum

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005068.3(SIM1):c.2119G>C (p.Asp707His)	SNV Germline	Chr6:100390543	Conflicting classifications of pathogenicity	Oromandibular-limb hypogenesis spectrum Condition: not provided Monogenic diabetes Obesity due to SIM1 deficiency not specified Inborn genetic diseases SIM1-related disorder	Criteria Provided Conflicting Classifications	CA3936871	rs_74726213	8 SubmittersRCV000240299 RCV000482527 RCV001174498 RCV001158265 RCV001820794 RCV002518552 RCV004547625
NM_001375380.1(EBF3):c.577A>G (p.Lys193Glu)	SNV Germline	Chr10:129877827	Likely pathogenic	Oromandibular-limb hypogenesis spectrum	No Assertion Criteria Provided	CA10602478	rs_886040976	1 SubmittersRCV000258066
NM_001822.7(CHN1):c.643G>A (p.Gly215Arg)	SNV Germline	Chr2:174824503	Likely pathogenic	Oromandibular-limb hypogenesis spectrum	Criteria Provided Single Submitter			1 SubmittersRCV003236922