Submissions for variant NM_000264.5(PTCH1):c.1602+15_1602+17del

dbSNP: rs528001004

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315051	SCV000481326	likely benign	Gorlin syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000367346	SCV000481327	likely benign	Holoprosencephaly sequence	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529044	SCV001473480	benign	not provided	2021-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001529044	SCV001893576	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Invitae	RCV000315051	SCV002400667	benign	Gorlin syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402093	SCV002708665	likely benign	Hereditary cancer-predisposing syndrome	2016-08-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529044	SCV001741833	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529044	SCV001807274	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723967	SCV001957829	benign	not specified		no assertion criteria provided	clinical testing