ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.48G>A (p.Lys16=) (rs587776405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566830 SCV000665419 likely pathogenic Hereditary cancer-predisposing syndrome 2017-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Last nucleotide of exon,Functionally-validated splicing mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
SNPedia RCV000133492 SCV000188566 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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