ClinVar Miner

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

gnomAD frequency: 0.11335  dbSNP: rs1800450
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Total submissions: 6
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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.

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