ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=)

gnomAD frequency: 0.00784  dbSNP: rs9332840
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959233 SCV001106130 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000959233 SCV001818022 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489339 SCV002796664 likely benign Wiedemann-Steiner syndrome 2021-09-13 criteria provided, single submitter clinical testing

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