ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg)

gnomAD frequency: 0.00003  dbSNP: rs369081861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959802 SCV001106730 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001585888 SCV001819342 likely benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279669 SCV002566928 benign Connective tissue disorder 2022-06-07 criteria provided, single submitter clinical testing

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