ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1285-4del

dbSNP: rs745754666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002179493 SCV002332517 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494041 SCV002802695 likely benign Combined oxidative phosphorylation defect type 13; Autosomal recessive nonsyndromic hearing loss 70 2021-08-17 criteria provided, single submitter clinical testing

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