ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.660C>T (p.Leu220=)

gnomAD frequency: 0.00051  dbSNP: rs148794726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243436 SCV000309853 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000877714 SCV000523183 likely benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514994 SCV001722973 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2024-01-08 criteria provided, single submitter clinical testing

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