ClinVar Miner

Submissions for variant NM_000371.4(TTR):c.337-13T>C (rs762691667)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000223469 SCV000271144 likely benign not specified 2016-02-16 criteria provided, single submitter clinical testing c.337-13T>C in intron 3 of TTR: This variant is not expected to have clinical si gnificance because a T>C change at this position does not diverge from the splic e consensus sequence and is therefore unlikely to impact splicing. It has been i dentified in 1/66280 European chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs762691667).
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173308 SCV001336392 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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