Submissions for variant NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)

gnomAD frequency: 0.00895  dbSNP: rs144917960

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094308	SCV000399881	likely benign	Fanconi anemia complementation group A	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000330085	SCV000558856	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001706516	SCV001858051	benign	not provided	2020-04-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820960	SCV002065332	benign	not specified	2021-08-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001706516	SCV004218634	benign	not provided	2022-08-23	criteria provided, single submitter	clinical testing