Submissions for variant NM_032444.4(SLX4):c.1803G>A (p.Ser601=)

gnomAD frequency: 0.00649  dbSNP: rs144892556

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249678	SCV000314920	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094344	SCV000396870	benign	Fanconi anemia complementation group P	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000346138	SCV000558656	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001753729	SCV002006726	likely benign	not provided	2021-10-26	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000249678	SCV002068026	benign	not specified	2021-03-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094344	SCV004015482	benign	Fanconi anemia complementation group P	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000249678	SCV001364716	likely benign	not specified	2012-08-31	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001753729	SCV002034053	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000249678	SCV002035325	benign	not specified		no assertion criteria provided	clinical testing