ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1272-5T>C

gnomAD frequency: 0.00016  dbSNP: rs377416503
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen 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 (formerly Invitae), Labcorp RCV000867068 SCV001008260 benign not provided 2018-05-02 criteria provided, single submitter clinical testing

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