ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12528A>C (p.Pro4176=)

gnomAD frequency: 0.00002  dbSNP: rs759623956
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748545 SCV004373977 likely benign Jeune thoracic dystrophy 2024-12-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818386 SCV005070395 uncertain significance Retinal dystrophy 2023-01-01 no assertion criteria provided clinical testing

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