ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del)

dbSNP: rs755316101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525655 SCV000655923 benign Early-onset Lafora body disease 2023-07-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952876 SCV004769376 likely benign PRDM8-related condition 2019-11-26 criteria provided, single submitter 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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