ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.987G>T (p.Leu329=)

gnomAD frequency: 0.06687  dbSNP: rs6831357
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530484 SCV000655935 benign Early-onset Lafora body disease 2024-02-01 criteria provided, single submitter clinical testing

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