ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1227T>C (p.Tyr409=)

dbSNP: rs1555461386
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581501 SCV000690776 likely benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000600139 SCV000717574 likely benign not specified 2017-03-23 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759892 SCV000889570 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581501 SCV001170638 likely benign Hereditary cancer-predisposing syndrome 2019-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV001451262 SCV001654889 likely benign Familial cancer of breast 2023-03-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000600139 SCV002014998 likely benign not specified 2021-10-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000581501 SCV002530595 likely benign Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter curation

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