ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)

gnomAD frequency: 0.00003  dbSNP: rs553516014
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000395024 SCV000335046 uncertain significance not provided 2015-09-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000395024 SCV001501379 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV003748217 SCV004559187 likely benign Jeune thoracic dystrophy 2023-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967721 SCV004795105 likely benign DYNC2H1-related condition 2019-03-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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