ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4127+8C>T (rs2470137)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515063 SCV000609751 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000603188 SCV000711719 benign not specified 2016-11-19 criteria provided, single submitter clinical testing c.4127+8C>T in intron 20 of STRC: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and it has been identified in 1.2% (117/9752) of African chromosomes by the Exome A ggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2470137).

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