ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)

gnomAD frequency: 0.00001  dbSNP: rs782548763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330797 SCV001522609 uncertain significance Hereditary factor VIII deficiency disease 2020-03-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001508070 SCV001713976 likely pathogenic not provided 2020-02-26 criteria provided, single submitter clinical testing PS4_moderate, PM2, PP1, PP5

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