ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=)

gnomAD frequency: 0.00021  dbSNP: rs375936342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596783 SCV000707212 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000596783 SCV000982073 likely benign not provided 2018-03-19 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 RCV000596783 SCV003487137 likely benign not provided 2022-09-02 criteria provided, single submitter clinical testing

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