ClinVar Miner

Submissions for variant NM_014297.5(ETHE1):c.375+7T>C

gnomAD frequency: 0.00007  dbSNP: rs752466453
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899474 SCV001043745 likely benign Ethylmalonic encephalopathy 2024-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000899474 SCV001456213 uncertain significance Ethylmalonic encephalopathy 2020-01-17 no assertion criteria provided clinical testing

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