ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1809G>A (p.Leu603=)

gnomAD frequency: 0.00001  dbSNP: rs780466301
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424235 SCV001626828 likely benign Early-onset Lafora body disease 2023-10-03 criteria provided, single submitter clinical testing

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