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

gnomAD frequency: 0.00295  dbSNP: rs202076833

Total submissions: 13

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