ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu)

gnomAD frequency: 0.00003  dbSNP: rs936778119
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 RCV000700655 SCV000829419 benign Developmental and epileptic encephalopathy, 26 2024-10-04 criteria provided, single submitter clinical testing
New York Genome Center RCV000700655 SCV001468874 uncertain significance Developmental and epileptic encephalopathy, 26 2022-01-04 criteria provided, single submitter clinical testing

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