ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.443del (p.Gly148fs)

dbSNP: rs587776646
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000007311 SCV002579097 likely pathogenic Paragangliomas 1 2022-04-29 criteria provided, single submitter clinical testing
OMIM RCV000007311 SCV000027508 pathogenic Paragangliomas 1 2001-05-15 no assertion criteria provided literature only

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