ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)

gnomAD frequency: 0.00002  dbSNP: rs771355909
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649540 SCV000771369 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091153 SCV001247025 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing DYNC1H1: PP2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001091153 SCV002496423 uncertain significance not provided 2022-03-24 criteria provided, single submitter clinical testing PP2

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