Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000988052 | SCV001137612 | benign | Hereditary spherocytosis type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
H3Africa Consortium | RCV001777127 | SCV002014626 | benign | not specified | 2020-10-28 | criteria provided, single submitter | research | While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.123, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error. |
Mayo Clinic Laboratories, |
RCV003482222 | SCV004228204 | uncertain significance | not provided | 2023-05-19 | criteria provided, single submitter | clinical testing | BA1, BS1, BP4 |
OMIM | RCV000000536 | SCV000020685 | benign | Spherocytosis, type 1, autosomal recessive | 1996-06-01 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000000536 | SCV001142389 | benign | Spherocytosis, type 1, autosomal recessive | 2020-01-06 | no assertion criteria provided | curation | NG_012820.1(NM_001142446.2):c.127-39509T>C in the ANK1 gene has an allele frequency of 0.112 in African subpopulation in the gnomAD database. 69 homozygous occurrences are observed in the gnomAD database. This variant was reported as -108T-C in a patient, compound heterozygous with V463I (PMID: 8640229). This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2, PM3. |