ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys)

gnomAD frequency: 0.01180  dbSNP: rs34717557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118215 SCV000533391 benign not specified 2016-12-08 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 RCV002055303 SCV002447751 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002055303 SCV005313698 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118215 SCV000152574 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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