ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.2148+8G>C

gnomAD frequency: 0.00001  dbSNP: rs543287562
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003111587 SCV003801226 likely benign not specified 2025-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002662354 SCV002978240 likely benign not provided 2024-08-20 criteria provided, single submitter clinical testing

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