Submissions for variant NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)

gnomAD frequency: 0.00460  dbSNP: rs145522204

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120986	SCV000305863	benign	not specified		criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000422431	SCV000511560	likely benign	not provided	2016-12-06	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001084625	SCV000558542	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120986	SCV000594687	benign	not specified	2021-10-11	criteria provided, single submitter	clinical testing
Mendelics	RCV000987100	SCV001136298	likely benign	Fanconi anemia complementation group A	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001146893	SCV001307656	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.
CeGaT Center for Human Genetics Tuebingen	RCV000422431	SCV001962465	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FANCD2: BP4, BS2
Sema4, Sema4	RCV001084625	SCV002529467	benign	Fanconi anemia	2020-08-27	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV001146893	SCV002802996	likely benign	Fanconi anemia complementation group D2	2021-11-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001146893	SCV004017656	benign	Fanconi anemia complementation group D2	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120986	SCV000085154	not provided	not specified	2013-09-19	no assertion provided	reference population