ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=)

gnomAD frequency: 0.00006  dbSNP: rs782427944
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198925 SCV002492889 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500433 SCV002795548 likely benign Wiedemann-Steiner syndrome 2021-12-15 criteria provided, single submitter clinical testing

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