ClinVar Miner

Submissions for variant NM_152222.2(RELT):c.1264C>T (p.Arg422Trp)

gnomAD frequency: 0.00108  dbSNP: rs139368769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064423 SCV002462673 benign not provided 2023-04-29 criteria provided, single submitter clinical testing
Mendelics RCV001171630 SCV002518975 pathogenic Amelogenesis imperfecta, type 3C 2022-05-04 criteria provided, single submitter clinical testing
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV001171630 SCV000998811 pathogenic Amelogenesis imperfecta, type 3C 2019-10-01 no assertion criteria provided research

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