ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24766-18C>T

gnomAD frequency: 0.64910  dbSNP: rs2288195
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081128 SCV000113036 benign not specified 2013-04-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000081128 SCV000307325 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000081128 SCV000519546 benign not specified 2016-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590678 SCV000697821 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.24871-18C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 79288/119702 control chromosomes (26517 homozygotes) at a frequency of 0.6623782, which is approximately 187 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), evidence that this variant is a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Genome-Nilou Lab RCV001542976 SCV001761412 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542977 SCV001761413 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001542977 SCV002405300 benign Nemaline myopathy 2 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000590678 SCV005245911 benign not provided criteria provided, single submitter not provided

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