ClinVar Miner

Submissions for variant NM_006912.6(RIT1):c.237+10C>A (rs367785615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085363 SCV000659220 likely benign Noonan syndrome 8 2020-10-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587028 SCV000698732 benign not provided 2017-07-04 criteria provided, single submitter clinical testing Variant summary: The RIT1 c.237+10C>A variant involves the alteration of a non-conserved intronic nucleotide. Mutation taster predicts a benign outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 64/121326 control chromosomes (1 homozygote) from ExAC, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.00093 (62/66676). This frequency is about 74 times the estimated maximal expected allele frequency of a pathogenic RIT1 variant (0.0000125), suggesting this is likely a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as benign.
GeneDx RCV000604079 SCV000729611 likely benign not specified 2017-08-08 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.

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