ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1197A>G (p.Gln399=) (rs374684043)

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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 RCV000165217 SCV000215931 likely benign Hereditary cancer-predisposing syndrome 2014-09-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001084618 SCV000259407 likely benign PTEN hamartoma tumor syndrome 2020-11-11 criteria provided, single submitter clinical testing
Counsyl RCV000412410 SCV000488163 likely benign Cowden syndrome 1 2016-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000420309 SCV000517465 likely benign not specified 2017-05-15 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000420309 SCV000602112 benign not specified 2020-01-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000165217 SCV000686276 likely benign Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679313 SCV000806059 likely benign not provided 2017-10-03 criteria provided, single submitter clinical testing

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