ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1182C>T (p.Asp394=)

gnomAD frequency: 0.00001  dbSNP: rs377317558
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000232577 SCV000288100 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338728 SCV002637848 likely benign Hereditary cancer-predisposing syndrome 2020-04-01 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316269 SCV004015409 likely benign Paragangliomas 5 2023-07-07 criteria provided, single submitter clinical testing

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