ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)

dbSNP: rs886050371
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000401469 SCV000385134 uncertain significance Charcot-Marie-Tooth disease type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000313957 SCV000385135 uncertain significance Autosomal dominant cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000352382 SCV000385136 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056392 SCV002321272 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-11-01 criteria provided, single submitter clinical testing

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