ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1464T>A (p.Ala488=)

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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 RCV005221550 SCV005863191 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-10-15 criteria provided, single submitter clinical testing

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