ClinVar Miner

Submissions for variant NM_153700.2(STRC):c.3555G>A (p.Leu1185=)

gnomAD frequency: 0.00014  dbSNP: rs2597064
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Total submissions: 4
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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 RCV000221047 SCV000270869 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Leu1185Leu in exon 16 of STRC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Athena Diagnostics RCV001288018 SCV001474809 likely benign not provided 2020-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467683 SCV002763077 likely benign Autosomal recessive nonsyndromic hearing loss 16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001288018 SCV005214595 likely benign not provided criteria provided, single submitter not provided

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