ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.909C>T (p.Leu303=) (rs145788619)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000127304 SCV000212828 likely benign Hereditary cancer-predisposing syndrome 2014-08-07 criteria provided, single submitter clinical testing
Color RCV000127304 SCV000686081 likely benign Hereditary cancer-predisposing syndrome 2015-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000114670 SCV000488221 likely benign Familial cancer of breast 2016-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000212781 SCV000170865 benign not specified 2013-11-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000127304 SCV000396124 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300127 SCV000396125 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000114670 SCV000252867 benign Familial cancer of breast 2018-01-04 criteria provided, single submitter clinical testing
PALB2 database RCV000114670 SCV000148617 likely benign Familial cancer of breast 2012-07-16 no assertion criteria provided literature only
PreventionGenetics RCV000212781 SCV000314379 likely benign not specified criteria provided, single submitter clinical testing

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