ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.179T>C (p.Phe60Ser) (rs2729509)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000144091 SCV000189165 untested Deafness, autosomal recessive 16 no assertion provided not provided Converted during submission to not provided.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151965 SCV000200498 benign not specified 2013-06-26 criteria provided, single submitter clinical testing Phe60Ser in exon 02 of STRC: This variant is not expected to have clinical signi ficance because it has been identified in ~25% of chromosomes from several popu lations by the 1000Genomes project (reported by the Deafness Variation Database: http://deafnessvariationdatabase.org; dbSNP rs143613180 ).

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