ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.*12C>T

gnomAD frequency: 0.00617  dbSNP: rs113652589
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000374390 SCV000372665 likely benign Hereditary pheochromocytoma-paraganglioma 2018-03-30 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000424465 SCV000525369 likely benign not specified 2017-10-17 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.
Genetic Services Laboratory, University of Chicago RCV000424465 SCV002066127 benign not specified 2019-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426693 SCV002729718 likely benign Hereditary cancer-predisposing syndrome 2015-04-20 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.
Breakthrough Genomics, Breakthrough Genomics RCV000128615 SCV005224401 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000128615 SCV000172243 uncertain significance not provided 2014-07-01 no assertion criteria provided literature only

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