ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.217dup (p.Ser73fs)

dbSNP: rs2135269358
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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 RCV001800260 SCV002044446 likely pathogenic Paragangliomas 1 2021-12-13 criteria provided, single submitter clinical testing Variant was observed in not affected child, Variant was reported as secondary finding_x000D_ Criteria applied: PVS1, PM2_SUP

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