ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1260+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472624 SCV004200661 likely pathogenic Dilated cardiomyopathy 1GG 2023-02-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004786945 SCV005404732 likely pathogenic Paragangliomas 5 2024-08-28 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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