ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.2016A>T (p.Glu672Asp)

gnomAD frequency: 0.00230  dbSNP: rs114419085
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ClinVar version:
Total submissions: 3
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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 RCV000202775 SCV000258258 uncertain significance not specified 2015-06-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522116 SCV001731594 benign not provided 2023-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001522116 SCV004157088 benign not provided 2022-08-01 criteria provided, single submitter clinical testing KMT2C: BS1, BS2

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