ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.2T>C (p.Met1Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine RCV003389094 SCV004100324 pathogenic BNAR syndrome criteria provided, single submitter clinical testing

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