ClinVar Miner

Submissions for variant NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn)

gnomAD frequency: 0.00593  dbSNP: rs138247613
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238877 SCV000297073 benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000894285 SCV001038260 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000894285 SCV001747889 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing METTL23: BP4, BS2
Genetic Services Laboratory, University of Chicago RCV000238877 SCV002069190 benign not specified 2020-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000894285 SCV005214138 likely benign not provided criteria provided, single submitter not provided

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