ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1443C>T (p.Val481=)

dbSNP: rs751871185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182582 SCV002349392 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2021-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004656864 SCV005163827 likely benign Hereditary cancer-predisposing syndrome 2024-04-10 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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