ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp)

gnomAD frequency: 0.00002  dbSNP: rs778359468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170045 SCV001251824 benign Kabuki syndrome 1 2020-05-03 criteria provided, single submitter clinical testing
Invitae RCV002559630 SCV003467412 benign Kabuki syndrome 2022-12-07 criteria provided, single submitter clinical testing

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