Submissions for variant NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)

gnomAD frequency: 0.00325  dbSNP: rs144420697

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120962	SCV000302506	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000461615	SCV000558870	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000664733	SCV000788740	uncertain significance	Fanconi anemia complementation group A	2016-12-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120962	SCV002047071	benign	not specified	2021-05-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120962	SCV002065321	benign	not specified	2021-04-22	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000664733	SCV004017564	benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
ITMI	RCV000120962	SCV000085130	not provided	not specified	2013-09-19	no assertion provided	reference population
Natera, Inc.	RCV000461615	SCV002090744	likely benign	Fanconi anemia	2019-10-23	no assertion criteria provided	clinical testing