ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.757G>A (p.Gly253Arg)

gnomAD frequency: 0.00001  dbSNP: rs775185224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929745 SCV002133626 benign Kabuki syndrome 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006117 SCV005637196 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-01-24 criteria provided, single submitter clinical testing

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