Submissions for variant NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)

gnomAD frequency: 0.00010  dbSNP: rs201438531

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205598	SCV000262151	likely benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000502118	SCV000594707	uncertain significance	not specified	2017-05-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001449943	SCV001653423	uncertain significance	Fanconi anemia complementation group G	2021-05-18	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237771	SCV002009791	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002515531	SCV003684909	uncertain significance	Inborn genetic diseases	2021-06-11	criteria provided, single submitter	clinical testing	The c.722C>T (p.P241L) alteration is located in exon 6 (coding exon 6) of the FANCG gene. This alteration results from a C to T substitution at nucleotide position 722, causing the proline (P) at amino acid position 241 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV001449943	SCV002077465	likely benign	Fanconi anemia complementation group G	2021-08-11	no assertion criteria provided	clinical testing