ClinVar Miner

Submissions for variant NM_000132.4(F8):c.3621C>T (p.His1207=)

gnomAD frequency: 0.00335  dbSNP: rs28370212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000861339 SCV000603532 benign not provided 2023-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861339 SCV001001624 benign not provided 2018-09-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942661 SCV004766191 likely benign F8-related disorder 2023-07-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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