ClinVar Miner

Submissions for variant NM_133497.4(KCNV2):c.756G>A (p.Lys252=)

gnomAD frequency: 0.00063  dbSNP: rs138861317
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
Eurofins Ntd Llc (ga) RCV000285624 SCV000345486 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000285624 SCV001732413 benign not provided 2023-11-19 criteria provided, single submitter clinical testing

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