ClinVar Miner

Submissions for variant NM_173630.4(RTTN):c.805T>C (p.Phe269Leu)

gnomAD frequency: 0.00096  dbSNP: rs141156594
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909181 SCV001053976 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV000909181 SCV001819952 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498531 SCV002809163 likely benign Microcephalic primordial dwarfism due to RTTN deficiency 2022-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118227 SCV000152586 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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