Total 3 pathogenic variants reported for Shukla-Vernon syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001379451.1(BCORL1):c.2669G>A (p.Arg890Gln)	SNV Germline	ChrX:130015441	Conflicting classifications of pathogenicity	Condition: not provided Shukla-Vernon syndrome BCORL1-related disorder	Criteria Provided Conflicting Classifications	CA10514392	rs_201843717	4 SubmittersRCV000369096 RCV003144186 RCV003947823
NM_001379451.1(BCORL1):c.95C>T (p.Pro32Leu)	SNV Germline	ChrX:130012586	Likely pathogenic	Shukla-Vernon syndrome	Criteria Provided Single Submitter	CA414565530	rs_1603105985	2 SubmittersRCV000790634