Submissions for variant NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)

gnomAD frequency: 0.01981  dbSNP: rs61746895

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251646	SCV000313696	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000346883	SCV000558903	benign	Fanconi anemia	2025-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001582874	SCV001820310	likely benign	not provided	2021-02-25	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29351780, 19737859)
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000251646	SCV002046775	benign	not specified	2021-03-26	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316438	SCV004015690	benign	Premature ovarian failure 15	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001582874	SCV005211951	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000251646	SCV001800631	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000251646	SCV001807683	benign	not specified		no assertion criteria provided	clinical testing