ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=)

gnomAD frequency: 0.00013  dbSNP: rs373726901
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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 RCV001440869 SCV001643784 likely benign Early-onset Lafora body disease 2024-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946151 SCV004762399 likely benign PRDM8-related disorder 2020-03-30 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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