ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3450C>T (p.Leu1150=)

dbSNP: rs2142253555
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002193458 SCV002489142 likely benign Familial cancer of breast 2021-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454566 SCV002616211 likely benign Hereditary cancer-predisposing syndrome 2022-10-22 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.

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