ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)

gnomAD frequency: 0.00535  dbSNP: rs6828134
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631883 SCV000752982 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001576624 SCV001474420 benign not provided 2023-08-21 criteria provided, single submitter clinical testing
GeneDx RCV001576624 SCV001803851 likely benign not provided 2023-04-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279452 SCV002566934 likely benign Connective tissue disorder 2019-05-01 criteria provided, single submitter clinical testing

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