ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)

gnomAD frequency: 0.00098  dbSNP: rs184324310
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306879 SCV000336023 benign not specified 2015-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878092 SCV001020941 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001565376 SCV001788713 likely benign not provided 2021-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502110 SCV002813146 likely benign Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis, susceptibility to, 24 2022-05-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565376 SCV005256724 likely benign not provided criteria provided, single submitter not provided

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