ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.165C>T (p.His55=)

dbSNP: rs786202080
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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 RCV000164716 SCV000215387 likely benign Hereditary cancer-predisposing syndrome 2019-03-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089365 SCV001049255 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000904718 SCV001134811 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing

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