ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.405+23C>T

gnomAD frequency: 0.00026  dbSNP: rs373731336
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000225956 SCV000287803 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2024-04-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454948 SCV000540306 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Outside ROI; reported in 1 study as "pathogenicity to be confirmed"
Counsyl RCV000663302 SCV000786557 likely benign Paragangliomas 3 2018-05-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000454948 SCV001470641 benign not specified 2020-03-18 criteria provided, single submitter clinical testing
GeneDx RCV001589184 SCV001814641 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22136840)
Sema4, Sema4 RCV002257547 SCV002527114 likely benign Hereditary cancer-predisposing syndrome 2021-04-21 criteria provided, single submitter curation

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