Submissions for variant NM_000316.3(PTH1R):c.1389T>C (p.Asn463=)

gnomAD frequency: 0.66388  dbSNP: rs1138518

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000404246	SCV000444797	benign	Metaphyseal chondrodysplasia, Jansen type	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.
Illumina Laboratory Services, Illumina	RCV000288818	SCV000444798	benign	Chondrodysplasia Blomstrand type	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515309	SCV001723360	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001515309	SCV001848347	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000288818	SCV002033296	benign	Chondrodysplasia Blomstrand type	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795962	SCV002033297	benign	Eiken syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001795961	SCV002033298	benign	Primary failure of tooth eruption	2021-11-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000404246	SCV002033299	benign	Metaphyseal chondrodysplasia, Jansen type	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515309	SCV005241784	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528349	SCV001739962	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528349	SCV001954608	benign	not specified		no assertion criteria provided	clinical testing