Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004577537 | SCV005061639 | uncertain significance | Hereditary factor VIII deficiency disease | 2024-05-09 | reviewed by expert panel | curation | The c.1272-5T>C variant is reported at an MAF of 0.0002955 (27/91365 alleles) in the European non-Finnish population in gnomAD v2.1.1, with 5 hemizygotes, meeting BS1 criteria of MAF > 0.000167. In summary, based on the evidence available at this time, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F8: BS1. |
Labcorp Genetics |
RCV000867068 | SCV001008260 | benign | not provided | 2018-05-02 | criteria provided, single submitter | clinical testing |