ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.60G>A (p.Glu20=)

gnomAD frequency: 0.00025  dbSNP: rs556744419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152993 SCV000202435 uncertain significance not provided 2014-04-29 criteria provided, single submitter clinical testing
Invitae RCV000152993 SCV001622142 likely benign not provided 2024-01-06 criteria provided, single submitter clinical testing

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