ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12685-3C>T

gnomAD frequency: 0.00006  dbSNP: rs149824412
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697776 SCV000525064 benign not provided 2020-12-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27066557, 30031633)
Invitae RCV000649636 SCV000771465 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111749 SCV001269336 benign Autosomal dominant cerebellar ataxia 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.
Illumina Laboratory Services, Illumina RCV000649636 SCV001269337 benign Charcot-Marie-Tooth disease axonal type 2O 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.
Ambry Genetics RCV002374665 SCV002685849 benign Inborn genetic diseases 2020-08-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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