ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro)

dbSNP: rs1553999041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513180 SCV000609154 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002060178 SCV002496148 likely pathogenic Paragangliomas 5 2020-02-08 criteria provided, single submitter clinical testing ACMG categories: PS5,PM1,PM2,BP1

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