ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.456+6G>T

gnomAD frequency: 0.00047  dbSNP: rs371735891
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230222 SCV000288139 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000998344 SCV000519052 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Counsyl RCV000662807 SCV000785640 uncertain significance Paragangliomas 5 2017-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998344 SCV001154354 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing SDHA: BP4
Sema4, Sema4 RCV002255137 SCV002527750 likely benign Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter curation
Ambry Genetics RCV002518337 SCV003724469 uncertain significance Inborn genetic diseases 2022-05-10 criteria provided, single submitter clinical testing The c.456+6G>T intronic alteration consists of a G to T substitution 6 nucleotides after exon 4 of the SDHA gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Myriad Genetics, Inc. RCV000662807 SCV004018608 likely benign Paragangliomas 5 2023-04-21 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000998344 SCV004220306 benign not provided 2023-05-23 criteria provided, single submitter clinical testing

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