ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.*551A>T

gnomAD frequency: 0.00360  dbSNP: rs181225797
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001144047 SCV001304623 benign Short-rib thoracic dysplasia 6 with or without polydactyly 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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