ClinVar Miner

Submissions for variant NM_000133.3(F9):c.769G>A (p.Val257Ile) (rs200608775)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490374 SCV000267310 uncertain significance Hereditary factor IX deficiency disease 2016-03-18 criteria provided, single submitter reference population
Illumina Clinical Services Laboratory,Illumina RCV000490374 SCV000481885 likely benign Hereditary factor IX deficiency disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000862519 SCV001003033 benign Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor IX defect 2020-10-20 criteria provided, single submitter clinical testing

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