ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=)

gnomAD frequency: 0.00021  dbSNP: rs201483860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653123 SCV001871305 benign not provided 2021-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653123 SCV002442506 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477872 SCV002801952 likely benign Wiedemann-Steiner syndrome 2021-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921310 SCV004731758 benign KMT2A-related disorder 2019-04-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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