ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.582C>T (p.Tyr194=)

gnomAD frequency: 0.00007  dbSNP: rs779941388
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 RCV000652515 SCV000774385 likely benign Progressive myoclonic epilepsy type 8 2022-09-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704172 SCV005210796 likely benign not provided criteria provided, single submitter not provided

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