ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=)

gnomAD frequency: 0.00058  dbSNP: rs139074745
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Total submissions: 6
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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 RCV000036819 SCV000060474 benign not specified 2012-11-29 criteria provided, single submitter clinical testing This variant is present in 14/572 Asian control chromosomes from the 1000 Genome s Project.
GeneDx RCV000902443 SCV000718002 benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000902443 SCV001046865 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490498 SCV002800260 likely benign Autosomal recessive nonsyndromic hearing loss 28 2021-07-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002490498 SCV003799563 benign Autosomal recessive nonsyndromic hearing loss 28 2022-02-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000902443 SCV005277298 benign not provided criteria provided, single submitter not provided

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