ClinVar Miner

Submissions for variant NM_000506.5(F2):c.371G>A (p.Arg124Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335365 SCV001528499 uncertain significance Prothrombin deficiency, congenital 2018-03-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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