ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe)

gnomAD frequency: 0.00001  dbSNP: rs750774484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542365 SCV001761057 uncertain significance Kabuki syndrome 1 2020-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568947 SCV003481822 benign Kabuki syndrome 2023-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005953 SCV005637179 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-01-08 criteria provided, single submitter clinical testing

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