ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)

gnomAD frequency: 0.00002  dbSNP: rs886042457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348892 SCV000334269 uncertain significance not provided 2015-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494827 SCV002776006 uncertain significance Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis, susceptibility to, 24 2021-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090343 SCV005779452 likely benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-11-13 criteria provided, single submitter clinical testing

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