ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.2520A>C (p.Ser840=)

gnomAD frequency: 0.00001  dbSNP: rs1269456109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817406 SCV002068172 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077285 SCV002485688 likely benign not provided 2023-07-31 criteria provided, single submitter clinical testing

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