ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.464+10C>T (rs587782445)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131511 SCV000186504 likely benign Hereditary cancer-predisposing syndrome 2014-01-23 criteria provided, single submitter clinical testing
Invitae RCV000590338 SCV000252700 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000196091 SCV000489702 likely benign Peutz-Jeghers syndrome 2016-11-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507764 SCV000602224 likely benign not specified 2016-11-03 criteria provided, single submitter clinical testing
Color RCV000131511 SCV000686651 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590338 SCV000696719 benign not provided 2017-06-09 criteria provided, single submitter clinical testing Variant summary: The STK11 c.464+10C>T variant involves the alteration of a non-conserved intronic nucleotide and 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 9/36576 control chromosomes (1 homozygote), predominantly in the South Asian cohort at a frequency of 0.00069 (6/8690, 1 homozygote). This frequency is about 110 times the estimated maximal expected allele frequency of a pathogenic STK11 variant (0.0000063), suggesting this is likely a benign polymorphism found primarily population(s) of South Asian origin. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590338 SCV000889859 benign not provided 2018-06-22 criteria provided, single submitter clinical testing

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