ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.18G>A (p.Leu6=)

gnomAD frequency: 0.00001  dbSNP: rs766437972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409492 SCV001611516 likely benign Ethylmalonic encephalopathy 2023-09-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946076 SCV004763552 likely benign ETHE1-related disorder 2019-03-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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