Total 3 pathogenic variants reported for Isolated Pierre-Robin syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys)	SNV Germline	Chr11:1934905	Conflicting classifications of pathogenicity	not specified Isolated Pierre-Robin syndrome Skeletal dysplasia Distal arthrogryposis Microcephaly Condition: not provided	Criteria Provided Conflicting Classifications	CA5816568	rs_367658497	3 SubmittersRCV000238964 RCV000735373 RCV002518523
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	SNV Germline	Chr10:129957324	Pathogenic	Hypotonia, ataxia, and delayed development syndrome Intellectual disability Global developmental delay Expressive language delay Hypotonia Dyssynergia Inborn genetic diseases Isolated Pierre-Robin syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16044166	rs_1057519389	7 SubmittersRCV000416944 RCV000417073 RCV000622833 RCV000663416 RCV001804994
NM_003091.4(SNRPB):c.560-1G>T	SNV Unknown	Chr20:2462762	Likely pathogenic	Isolated Pierre-Robin syndrome Intellectual disability	No Assertion Criteria Provided		rs_2085044676	1 SubmittersRCV001261285