ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val)

gnomAD frequency: 0.00373  dbSNP: rs113301547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079043 SCV000253609 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000418931 SCV000511153 likely benign not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000418931 SCV000729009 benign not provided 2018-04-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003150975 SCV003840105 benign not specified 2022-08-15 no assertion criteria provided clinical testing

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