ClinVar Miner

Submissions for variant NM_016008.4(DYNC2LI1):c.16C>T (p.Leu6Phe)

gnomAD frequency: 0.00271  dbSNP: rs146698690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892432 SCV001036304 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910618 SCV004719198 likely benign DYNC2LI1-related condition 2019-08-09 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).
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985152 SCV001133144 likely pathogenic Short-rib thoracic dysplasia 15 with polydactyly 2019-09-26 no assertion criteria provided clinical testing

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