ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.234C>T (p.Thr78=) (rs35917308)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000201313 SCV000149495 likely benign not specified 2017-08-25 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.
Ambry Genetics RCV000115586 SCV000213207 likely benign Hereditary cancer-predisposing syndrome 2014-08-11 criteria provided, single submitter clinical testing
Invitae RCV000199517 SCV000253237 likely benign PTEN hamartoma tumor syndrome 2017-12-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000199517 SCV000365738 likely benign PTEN hamartoma tumor syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000409958 SCV000488688 likely benign Cowden syndrome 1 2016-05-26 criteria provided, single submitter clinical testing
Color RCV000115586 SCV000537431 likely benign Hereditary cancer-predisposing syndrome 2015-11-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000201313 SCV000540134 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent, not in splice consensus, ExAC: 0.1% (6/8516) East Asian chromosomes

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