ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.951G>C (p.Pro317=)

gnomAD frequency: 0.00001  dbSNP: rs1326656501
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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 RCV001425928 SCV001628566 likely benign Early-onset Lafora body disease 2020-07-30 criteria provided, single submitter clinical testing

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