ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.8416A>G (p.Ile2806Val)

dbSNP: rs777184216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415741 SCV000493653 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV002521483 SCV003316707 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-02-25 criteria provided, single submitter clinical testing

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