ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=)

gnomAD frequency: 0.00001  dbSNP: rs771212750
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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) RCV000597517 SCV000707275 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597517 SCV001072459 likely benign not provided 2018-12-20 criteria provided, single submitter clinical testing

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