ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.118dup (p.Arg40fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV004589328 SCV005083615 pathogenic Paragangliomas 3 2024-04-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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