ClinVar Miner

Submissions for variant NM_021267.5(CERS1):c.549C>T (p.His183=)

gnomAD frequency: 0.00009  dbSNP: rs200024180
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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 RCV002206475 SCV002494543 likely benign Progressive myoclonic epilepsy type 8 2024-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960936 SCV004771832 likely benign CERS1-related disorder 2019-07-10 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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