ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.6T>G (p.Ala2=)

dbSNP: rs775353334
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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 RCV002205624 SCV002366720 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361471 SCV002666771 likely benign Hereditary cancer-predisposing syndrome 2020-06-09 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.
Myriad Genetics, Inc. RCV005424719 SCV006094161 benign Paragangliomas 3 2025-03-13 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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