ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.3420G>A (p.Ser1140=)

gnomAD frequency: 0.00002  dbSNP: rs772760832
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 RCV000906078 SCV001050700 likely benign not provided 2017-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000906078 SCV004151813 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing NEK1: BP4, BP7

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