ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1432+20G>C

dbSNP: rs200127852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663191 SCV000786364 likely benign Paragangliomas 5 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060801 SCV002410563 benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017712 SCV004849286 likely benign Hereditary cancer-predisposing syndrome 2015-08-21 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.

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