Submissions for variant NM_000179.2(MSH6):c.4001+11_4001+15dup (rs587779302)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160733	SCV000211369	benign	Hereditary cancer-predisposing syndrome	2014-10-01	criteria provided, single submitter	clinical testing	The variant is found in BR-OV-HEREDIC,HEREDICANCER panel(s).
Invitae	RCV000587529	SCV000253114	likely benign	not provided	2015-05-15	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000074967	SCV000430981	uncertain significance	Lynch syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Color	RCV000160733	SCV000690426	likely benign	Hereditary cancer-predisposing syndrome	2016-02-25	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000587529	SCV000695907	benign	not provided	2016-12-01	criteria provided, single submitter	clinical testing	Variant summary: The MSH6 c.4001+11_4001+15dupAACTA variant results into duplication of five non-conserved nucleotides in intron 9 at a region not widely known to involve in splicing. Mutation taster predicts a benign outcome for this variant. In addition, 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 29/111750 control chromosomes from ExAC at a frequency of 0.0002595, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories have classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals in literature. Taken together, this variant is classified as Benign.
Counsyl	RCV000663009	SCV000786021	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2018-02-02	criteria provided, single submitter	clinical testing
Mendelics	RCV000074967	SCV000837930	uncertain significance	Lynch syndrome	2018-07-02	criteria provided, single submitter	clinical testing

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