ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=)

gnomAD frequency: 0.00461  dbSNP: rs144810863
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545415 SCV000655913 benign Early-onset Lafora body disease 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717673 SCV005300915 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003962603 SCV004782007 benign PRDM8-related disorder 2019-11-12 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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