ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.137C>G (p.Ala46Gly)

dbSNP: rs540498342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Hearing Loss Research Unit, University of Madras RCV001249183 SCV001366117 likely pathogenic Autosomal recessive nonsyndromic hearing loss 70 criteria provided, single submitter case-control
Labcorp Genetics (formerly Invitae), Labcorp RCV002069317 SCV002409935 likely benign not provided 2024-10-04 criteria provided, single submitter clinical testing

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