ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.430-7C>T

gnomAD frequency: 0.80479  dbSNP: rs1749409
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179468 SCV000231721 benign not specified 2015-08-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000179468 SCV000269749 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 481-7C>T in intron 5 of RIT1: This variant is not expected to have clinical sign ificance because it has been identified in 45.4% (2001/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs1749409).
PreventionGenetics, part of Exact Sciences RCV000179468 SCV000307149 benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590610 SCV000698734 benign not provided 2017-07-04 criteria provided, single submitter clinical testing Variant summary: The RIT1 c.430-7C>T variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 106445/121348 control chromosomes (47428 homozygotes) at a frequency of 0.8771879, which is approximately 70175 times the estimated maximal expected allele frequency of a pathogenic RIT1 variant (0.0000125), therefore it is a very common polymorphism found in general population. Based on the allele frequency of this variant in general population, it is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513007 SCV001720531 benign Noonan syndrome 8 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001513007 SCV002033633 benign Noonan syndrome 8 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000590610 SCV005282246 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000179468 SCV001917923 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000179468 SCV001962702 benign not specified no assertion criteria provided clinical testing

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