ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7127-33TTGT[3] (rs149197458)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000247444 SCV000604517 benign not specified 2016-06-23 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761069 SCV000890984 uncertain significance Neuroblastoma 2016-07-22 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588699 SCV000696406 benign not provided 2017-06-09 criteria provided, single submitter clinical testing Variant summary: The NF1 c.7127-19_7127-8delGTTTGTTTGTTT variant involves the alteration of 12 intronic nucleotides. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 146/23188 control chromosomes (2 homozygotes) at a frequency of 0.0062964, which is approximately 30 times the estimated maximal expected allele frequency of a pathogenic NF1 variant (0.0002084), suggesting this variant is likely a benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
PreventionGenetics RCV000247444 SCV000306290 likely benign not specified criteria provided, single submitter clinical testing
PreventionGenetics RCV000247444 SCV000806311 benign not specified 2016-04-22 criteria provided, single submitter clinical testing

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