ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1818GGA[8] (p.Glu621del)

dbSNP: rs376810326
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Total submissions: 5
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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 RCV000152128 SCV000200819 benign not specified 2013-09-11 criteria provided, single submitter clinical testing Glu621del in Exon 2 of TPRN: This variant is not expected to have clinical signi ficance because it has been identified in 5.7% (455/8007) of European American c hromosomes and 6.5% (264/4126) of African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs77086130 ).
Athena Diagnostics RCV000993343 SCV001146226 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285348 SCV001471762 benign Autosomal recessive nonsyndromic hearing loss 79 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000993343 SCV001903748 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000993343 SCV002429759 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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