Submissions for variant NM_024529.5(CDC73):c.*12C>A

gnomAD frequency: 0.00196  dbSNP: rs193025205

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000206613	SCV000262292	benign	Parathyroid carcinoma	2025-01-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346877	SCV000352146	likely benign	Hyperparathyroidism 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000385126	SCV000352147	likely benign	Hyperparathyroidism 2 with jaw tumors	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000206613	SCV000352148	likely benign	Parathyroid carcinoma	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000438721	SCV000521071	likely benign	not specified	2016-10-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514805	SCV000609945	likely benign	not provided	2017-06-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514805	SCV001246846	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	CDC73: BS1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000438721	SCV004243449	likely benign	not specified	2024-02-06	criteria provided, single submitter	clinical testing