ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.762C>A (p.Ala254=)

gnomAD frequency: 0.00001  dbSNP: rs777230548
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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 RCV002081485 SCV002423534 likely benign Ethylmalonic encephalopathy 2023-09-10 criteria provided, single submitter clinical testing

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