ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.339C>T (p.Ile113=)

gnomAD frequency: 0.00001  dbSNP: rs1047677628
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020195 SCV001181643 likely benign Hereditary cancer-predisposing syndrome 2019-09-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001484292 SCV001688708 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2022-11-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001020195 SCV002527109 likely benign Hereditary cancer-predisposing syndrome 2021-02-04 criteria provided, single submitter curation

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