ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1683C>T (p.Ala561=)

gnomAD frequency: 0.00001  dbSNP: rs770473069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069412 SCV002380977 likely benign not provided 2022-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493466 SCV002812513 likely benign Hereditary factor XI deficiency disease 2021-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277776 SCV001464745 uncertain significance Plasma factor XI deficiency 2020-04-20 no assertion criteria provided clinical testing

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