ClinVar Miner

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

gnomAD frequency: 0.01144  dbSNP: rs2470137
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Total submissions: 4
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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, Mass General Brigham 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).
GeneDx RCV000515063 SCV001776557 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467845 SCV002762999 benign Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing

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