ClinVar Miner

Submissions for variant NM_138927.4(SON):c.4897_4900del (p.Thr1633fs)

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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 RCV005001957 SCV005627519 pathogenic ZTTK syndrome 2024-12-10 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2

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