ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)

gnomAD frequency: 0.00003  dbSNP: rs17540728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001110241 SCV001267654 uncertain significance Autosomal dominant cerebellar ataxia 2017-08-02 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001110987 SCV001268486 benign Charcot-Marie-Tooth disease axonal type 2O 2017-08-02 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.
Invitae RCV001110987 SCV001624550 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-11-20 criteria provided, single submitter clinical testing

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