ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.5647+16C>T

gnomAD frequency: 0.00541  dbSNP: rs114315958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436231 SCV000519920 likely benign not specified 2016-11-10 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 RCV002064962 SCV002379925 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002064962 SCV005208322 likely benign not provided criteria provided, single submitter not provided

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