ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4006A>G (p.Ile1336Val)

gnomAD frequency: 0.00004  dbSNP: rs368451486
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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 RCV001943639 SCV002194148 benign Kabuki syndrome 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006239 SCV005636035 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-04 criteria provided, single submitter clinical testing

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