ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=)

gnomAD frequency: 0.00116  dbSNP: rs764387669
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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 RCV000951455 SCV001097857 benign Early-onset Lafora body disease 2024-08-24 criteria provided, single submitter clinical testing

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