ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1161C>T (p.Ala387=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003084128 SCV003469613 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2022-04-09 criteria provided, single submitter clinical testing

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