ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.63+8C>T

gnomAD frequency: 0.00002  dbSNP: rs766358430
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227123 SCV000288147 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437021 SCV004151943 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing SDHA: BP4, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003437021 SCV004220313 likely benign not provided 2022-09-16 criteria provided, single submitter clinical testing

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