Submissions for variant NM_020937.4(FANCM):c.527C>T (p.Thr176Ile)

gnomAD frequency: 0.00371  dbSNP: rs77374493

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000338024	SCV000558917	benign	Fanconi anemia	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000503452	SCV000594742	benign	not specified	2019-08-30	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001293001	SCV001481727	uncertain significance	Spermatogenic failure 28	2020-12-01	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001706479	SCV001823706	likely benign	not provided	2021-06-14	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000503452	SCV002047229	benign	not specified	2021-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706479	SCV004134044	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	FANCM: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV004537775	SCV004728175	benign	FANCM-related disorder	2019-05-08	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).