ClinVar Miner

Submissions for variant NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=)

gnomAD frequency: 0.04102  dbSNP: rs28405693
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551781 SCV000655922 benign Early-onset Lafora body disease 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716559 SCV005300918 benign not provided criteria provided, single submitter not provided

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