ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.63+16G>C

gnomAD frequency: 0.00001  dbSNP: rs1252759825
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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 RCV002170220 SCV002331740 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2024-09-30 criteria provided, single submitter clinical testing

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