ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11120G>A (p.Arg3707Gln)

gnomAD frequency: 0.00002  dbSNP: rs587778477
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854644 SCV002212890 benign Kabuki syndrome 2024-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008029 SCV005636384 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-06-09 criteria provided, single submitter clinical testing
ITMI RCV000121427 SCV000085619 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004758645 SCV005367506 uncertain significance KMT2D-related disorder 2024-03-09 no assertion criteria provided clinical testing The KMT2D c.11120G>A variant is predicted to result in the amino acid substitution p.Arg3707Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.022% of alleles in individuals of East Asian descent in gnomAD, which may be too common to be a primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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