ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13671+14A>C

gnomAD frequency: 0.00004  dbSNP: rs775862454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598545 SCV000706760 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062073 SCV002386930 likely benign Kabuki syndrome 2023-10-05 criteria provided, single submitter clinical testing

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