ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1432+7G>C

gnomAD frequency: 0.00004  dbSNP: rs760526397
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234401 SCV000288112 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000662744 SCV000785523 likely benign Paragangliomas 5 2017-09-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800594 SCV002046874 likely benign not provided 2021-04-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662744 SCV004018606 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.

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