Submissions for variant NM_001018115.3(FANCD2):c.2022-5C>T

dbSNP: rs4019784

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202851	SCV000258224	likely benign	not specified	2015-10-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368728	SCV000439584	likely benign	Fanconi anemia complementation group D2	2018-01-12	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000202851	SCV000603565	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Mendelics	RCV000987102	SCV001136300	likely benign	Fanconi anemia complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001434411	SCV001637216	likely benign	Fanconi anemia	2021-02-10	criteria provided, single submitter	clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000202851	SCV001984606	likely benign	not specified	2020-03-19	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000860369	SCV002011333	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225505	SCV002505218	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001434411	SCV002529482	likely benign	Fanconi anemia	2021-02-11	criteria provided, single submitter	curation
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000860369	SCV001553772	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000860369	SCV001800171	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000860369	SCV001807985	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000860369	SCV001970722	likely benign	not provided		no assertion criteria provided	clinical testing