ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.841+11T>C

gnomAD frequency: 0.00778  dbSNP: rs114480216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421849 SCV000528420 likely benign not specified 2017-02-02 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 RCV002063355 SCV002464848 benign not provided 2025-01-11 criteria provided, single submitter clinical testing

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