ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.7186C>T (p.Gln2396Ter)

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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 RCV003322673 SCV004027670 likely pathogenic Radio-Tartaglia syndrome 2023-07-10 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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