ClinVar Miner

Submissions for variant NM_016616.5(NME8):c.528+11T>C

gnomAD frequency: 0.00463  dbSNP: rs117681493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155582 SCV000205290 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 528+11T>C in intron 9 of TXNDC3: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 0.8% (66/8520) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs117681493).
PreventionGenetics, part of Exact Sciences RCV000155582 SCV000312744 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056090 SCV002403966 benign Primary ciliary dyskinesia 6 2024-01-20 criteria provided, single submitter clinical testing

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