ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.49del (p.His17fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003149096 SCV003836630 pathogenic Paragangliomas 3 2023-01-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003149096 SCV004807141 pathogenic Paragangliomas 3 2024-03-26 criteria provided, single submitter clinical testing

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