ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.429A>C (p.Ala143=)

dbSNP: rs200107216
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 RCV001493497 SCV001698126 likely benign Progressive myoclonic epilepsy type 8 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405688 SCV004145277 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CERS1: BP4, BP7

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