ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.408G>A (p.Gln136=)

gnomAD frequency: 0.00005  dbSNP: rs190477316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469927 SCV000563697 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567403 SCV000674970 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Sema4, Sema4 RCV000567403 SCV002527747 likely benign Hereditary cancer-predisposing syndrome 2022-02-15 criteria provided, single submitter curation

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