ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1073T>C (p.Leu358Pro)

gnomAD frequency: 0.01648  dbSNP: rs60910563
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607765 SCV000724820 benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000886084 SCV001029568 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117400 SCV003799739 benign Autosomal recessive nonsyndromic hearing loss 79 2023-11-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000886084 SCV005318063 benign not provided criteria provided, single submitter not provided

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