Total 2 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_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	SNV Germline	Chr10:129957324	Pathogenic	Hypotonia, ataxia, and delayed development syndrome Global developmental delay Dyssynergia Intellectual disability Expressive language delay Hypotonia Isolated Pierre-Robin syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16044166	rs_1057519389	7 SubmittersRCV000416944 RCV000417073 RCV000663416 RCV000622833 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	CA408013710	rs_2085044676	1 SubmittersRCV001261285