ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3134C>T (p.Pro1045Leu)

gnomAD frequency: 0.00006  dbSNP: rs376896214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553475 SCV001774352 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005961 SCV005636077 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094772 SCV005822939 benign Kabuki syndrome 2024-07-23 criteria provided, single submitter clinical testing

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