ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.855A>G (p.Glu285=) (rs751888926)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162591 SCV000213009 likely benign Hereditary cancer-predisposing syndrome 2014-07-16 criteria provided, single submitter clinical testing
Invitae RCV001086791 SCV000261401 likely benign PTEN hamartoma tumor syndrome 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000162591 SCV000686310 likely benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
GeneDx RCV000606748 SCV000729660 benign not specified 2015-09-17 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000204950 SCV001148039 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086791 SCV001260515 likely benign PTEN hamartoma tumor syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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