ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.48C>G (p.Ala16=)

dbSNP: rs1553261765
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601408 SCV000727292 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001475011 SCV001679192 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2023-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331076 SCV002634575 likely benign Hereditary cancer-predisposing syndrome 2021-01-01 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.
All of Us Research Program, National Institutes of Health RCV004002591 SCV004826284 likely benign Hereditary pheochromocytoma-paraganglioma 2023-05-30 criteria provided, single submitter clinical testing

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