ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.622-8T>C

gnomAD frequency: 0.00037  dbSNP: rs370714378
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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 RCV000233358 SCV000288146 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2025-02-02 criteria provided, single submitter clinical testing
Counsyl RCV000411772 SCV000488423 uncertain significance Paragangliomas 5 2016-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000427201 SCV000536020 likely benign not provided 2020-02-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29177515)
Myriad Genetics, Inc. RCV000411772 SCV004018612 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000427201 SCV002035060 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000427201 SCV002037228 likely benign not provided no assertion criteria provided clinical testing

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