Submissions for variant NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)

gnomAD frequency: 0.11335  dbSNP: rs1800450

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
H3Africa Consortium	RCV001777138	SCV002014644	benign	not specified	2020-10-28	criteria provided, single submitter	research	While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.052, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
CeGaT Center for Human Genetics Tuebingen	RCV002274880	SCV002563003	uncertain significance	not provided	2022-12-01	criteria provided, single submitter	clinical testing	MBL2: PS3:Moderate, PS4:Supporting
Fulgent Genetics, Fulgent Genetics	RCV000015424	SCV002809273	likely benign	Mannose-binding lectin deficiency	2022-04-05	criteria provided, single submitter	clinical testing
Invitae	RCV002274880	SCV003515799	benign	not provided	2024-01-23	criteria provided, single submitter	clinical testing
OMIM	RCV000015424	SCV000035687	pathogenic	Mannose-binding lectin deficiency	2004-10-01	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000015424	SCV000607348	not provided	Mannose-binding lectin deficiency		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.