ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.693dup (p.Tyr232fs)

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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 RCV003885402 SCV004698057 likely pathogenic Autoimmune lymphoproliferative syndrome type 1 2024-02-15 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP

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