Submissions for variant NM_024529.5(CDC73):c.33C>T (p.Tyr11=)

gnomAD frequency: 0.00094  dbSNP: rs150951102

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000232276	SCV000290767	benign	Parathyroid carcinoma	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267832	SCV000352119	likely benign	Hyperparathyroidism 2 with jaw tumors	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000232276	SCV000352120	likely benign	Parathyroid carcinoma	2017-04-28	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	RCV000372976	SCV000352121	likely benign	Hyperparathyroidism 1	2017-04-28	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	RCV000858076	SCV000530378	likely benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17130827, 20052758, 12960210, 17065424)
CeGaT Center for Human Genetics Tuebingen	RCV000858076	SCV001147565	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CDC73: BP4
Ambry Genetics	RCV001020200	SCV001181648	likely benign	Hereditary cancer-predisposing syndrome	2018-10-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Sema4, Sema4	RCV001020200	SCV002530567	benign	Hereditary cancer-predisposing syndrome	2020-10-16	criteria provided, single submitter	curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001729478	SCV001977656	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000858076	SCV001980290	likely benign	not provided		no assertion criteria provided	clinical testing