ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12902+46G>A

gnomAD frequency: 0.35190  dbSNP: rs2273440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833359 SCV000975122 benign not provided 2018-06-18 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173228 SCV001336309 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833359 SCV005294125 benign not provided criteria provided, single submitter not provided

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