ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.4561C>T (p.Arg1521Trp)

gnomAD frequency: 0.00764  dbSNP: rs138763871
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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, Mass General Brigham Personalized Medicine RCV000151945 SCV000200478 benign not specified 2015-05-03 criteria provided, single submitter clinical testing p.Arg1521Trp in exon 24 of STRC: This variant is not expected to have clinical s ignificance because it has been identified in 3.9% (254/6588) of Finnish chromos omes including 8 homozygotes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs138763871), and the arginine (Arg) residue at po sition 1521 is not conserved through species.
Breakthrough Genomics, Breakthrough Genomics RCV004714511 SCV005290516 benign not provided criteria provided, single submitter not provided

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