ClinVar Miner

Submissions for variant NM_000132.4(F8):c.787+3A>G

dbSNP: rs2073548872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010896 SCV000031091 pathogenic Hereditary factor VIII deficiency disease 1994-04-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003934820 SCV004756123 likely pathogenic F8-related disorder 2023-11-16 no assertion criteria provided clinical testing The F8 c.787+3A>G variant is predicted to interfere with splicing. This variant has been reported in individuals with Hemophilia A (Tuddenham et al. 1994. PubMed ID: 7984443; Bidichandani et al. 1994. PubMed ID: 8069313). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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