ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9377G>T (p.Gly3126Val)

gnomAD frequency: 0.00002  dbSNP: rs772418918
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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 RCV002036678 SCV002317743 benign Kabuki syndrome 2024-10-24 criteria provided, single submitter clinical testing
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004821322 SCV005442607 uncertain significance Kabuki syndrome 1 2024-12-25 criteria provided, single submitter research The KMT2D c.9377G>T:p.(Gly3126Val) heterozygous variant is very rare and predicted deleterious. It was detected in an individual with sloping normal-to-profound HL.

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