ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=)

gnomAD frequency: 0.00029  dbSNP: rs139469741
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 RCV002154191 SCV002470554 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486971 SCV002798181 likely benign Wiedemann-Steiner syndrome 2022-04-13 criteria provided, single submitter clinical testing

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