Total 2 pathogenic variants reported for Blue rubber bleb nevus

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_053274.3(GLMN):c.761C>G (p.Pro254Arg)	SNV Germline	Chr1:92271627	Conflicting classifications of pathogenicity	Glomuvenous malformation Blue rubber bleb nevus	Criteria Provided Conflicting Classifications	CA950489	rs_145762716	2 SubmittersRCV000303243 RCV000736028
NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter)	SNV Germline	Chr1:92247100	Pathogenic	Blue rubber bleb nevus	Criteria Provided Single Submitter		rs_1557497881	1 SubmittersRCV000736027