ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn)

gnomAD frequency: 0.00001  dbSNP: rs202167830
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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 RCV002105883 SCV002409788 likely benign Kabuki syndrome 2023-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508004 SCV002809593 likely benign Kabuki syndrome 1 2022-03-11 criteria provided, single submitter clinical testing

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