ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu)

gnomAD frequency: 0.35350  dbSNP: rs5756795
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614567 SCV000730248 benign not specified 2017-05-09 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.
Genome-Nilou Lab RCV001838636 SCV002098771 benign Autosomal recessive nonsyndromic hearing loss 28 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002066760 SCV002402370 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002066760 SCV005277292 benign not provided criteria provided, single submitter not provided

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