ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)

gnomAD frequency: 0.00295  dbSNP: rs202076833
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000121371 SCV000193423 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224720 SCV000281048 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000121371 SCV000309612 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000121371 SCV000336276 benign not specified 2015-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000345406 SCV001012700 benign Kabuki syndrome 2025-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000224720 SCV001869773 benign not provided 2019-08-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505063 SCV002795463 benign Kabuki syndrome 1 2021-09-16 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224158 SCV003920133 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.5% (677/117374) including 3 homozygotes (https://gnomad.broadinstitute.org/variant/12-49445392-G-T?dataset=gnomad_r2_1). This variant is present in ClinVar, with several labs classifying this variant as Likely Benign or Benign (Variation ID:134664). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000224720 SCV004130823 benign not provided 2024-09-01 criteria provided, single submitter clinical testing KMT2D: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000224720 SCV005213086 likely benign not provided criteria provided, single submitter not provided
ITMI RCV000121371 SCV000085553 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224720 SCV001799218 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224720 SCV001973813 likely benign not provided no assertion criteria provided clinical testing

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