ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)

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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 RCV003883430 SCV004697867 uncertain significance Pontocerebellar hypoplasia type 2D 2024-02-06 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP

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