ClinVar Miner

Submissions for variant NM_000313.4(PROS1):c.346+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University RCV003389029 SCV004101027 likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant 2023-11-02 criteria provided, single submitter clinical testing

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