ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.384C>T (p.Thr128=)

dbSNP: rs1553265821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573492 SCV000675097 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001468401 SCV001672450 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2023-09-10 criteria provided, single submitter clinical testing

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