ClinVar Miner

Submissions for variant NM_017841.4(SDHAF2):c.261-10T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477367 SCV004220251 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in individuals with SDHAF2-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect SDHAF2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003633727 SCV004538938 likely benign Hereditary pheochromocytoma-paraganglioma 2023-12-12 criteria provided, single submitter clinical testing

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