ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)

dbSNP: rs80338847
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007316 SCV000027513 pathogenic Paragangliomas 1 2001-07-01 no assertion criteria provided literature only
GeneReviews RCV000020523 SCV000040980 not provided Hereditary pheochromocytoma-paraganglioma no assertion provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529735 SCV001743703 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001529735 SCV001807470 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529735 SCV001952832 pathogenic not provided no assertion criteria provided clinical testing

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