Submissions for variant NM_001018115.3(FANCD2):c.195G>C (p.Gln65His)

gnomAD frequency: 0.00738  dbSNP: rs36084488

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094769	SCV000439460	benign	Fanconi anemia complementation group D2	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000431377	SCV000511060	benign	not provided	2017-01-04	criteria provided, single submitter	clinical testing
Invitae	RCV000329799	SCV000626467	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000120993	SCV002051023	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120993	SCV002070974	benign	not specified	2021-01-07	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225379	SCV002505175	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000329799	SCV002529478	benign	Fanconi anemia	2020-10-16	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000431377	SCV004146895	benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FANCD2: BP4, BS1, BS2
ITMI	RCV000120993	SCV000085161	not provided	not specified	2013-09-19	no assertion provided	reference population