ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-9C>G (rs11202592)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131696 SCV000186732 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
ClinGen PTEN Variant Curation Expert Panel RCV000203697 SCV000840463 benign PTEN hamartoma tumor syndrome 2016-11-09 reviewed by expert panel curation PTEN c.-9C>G (NC_000010.10:g.89624218C>G) meets criteria to be classified as benign for PTEN Hamartoma Tumor syndrome in an autosomal dominant manner using modified ACMG criteria (Mester et al. 2018; manuscript in preparation). Please see a summary of the rules and criteria codes in the 'PTEN ACMG Specifications Summary' document (assertion method column). BA1: Allele frequency of 0.048 (4.8%, 903/18,870 alleles) in the East Asian subpopulation of the gnomAD cohort. (PMID 27535533)
Color RCV000131696 SCV000537398 benign Hereditary cancer-predisposing syndrome 2015-04-06 criteria provided, single submitter clinical testing
Counsyl RCV000409463 SCV000488430 benign Cowden syndrome 1 2016-03-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078600 SCV000110456 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203697 SCV000365735 likely benign PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000203697 SCV000261850 benign PTEN hamartoma tumor syndrome 2016-03-29 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078600 SCV000303567 benign not specified criteria provided, single submitter clinical testing

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