ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln)

gnomAD frequency: 0.00003  dbSNP: rs369794887
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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 RCV001903608 SCV002173541 benign Kabuki syndrome 2024-06-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002652 SCV002781520 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-26 criteria provided, single submitter clinical testing

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