Submissions for variant NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)

gnomAD frequency: 0.00086  dbSNP: rs140417636

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000197821	SCV000252672	benign	Gorlin syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001529363	SCV000514305	likely benign	not provided	2023-10-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Ambry Genetics	RCV000570647	SCV000674487	likely benign	Hereditary cancer-predisposing syndrome	2019-04-09	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.
Eurofins Ntd Llc (ga)	RCV000421939	SCV000862851	likely benign	not specified	2018-08-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169142	SCV001331789	likely benign	Holoprosencephaly 7	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000197821	SCV001331790	benign	Gorlin syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Sema4, Sema4	RCV000570647	SCV002535147	benign	Hereditary cancer-predisposing syndrome	2021-07-14	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002478698	SCV002803317	likely benign	Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7	2021-10-27	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153469	SCV003843367	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001529363	SCV004160180	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PTCH1: BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529363	SCV001742673	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529363	SCV001798890	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529363	SCV001977767	likely benign	not provided		no assertion criteria provided	clinical testing