ClinVar Miner

Submissions for variant NM_020706.2(SCAF4):c.1669dup (p.Tyr557fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003448511 SCV004175936 pathogenic Fliedner-Zweier syndrome 2023-12-07 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2_SUP

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