ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1038A>G (p.Lys346=)

gnomAD frequency: 0.00001  dbSNP: rs515726059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564445 SCV000663366 likely benign Hereditary cancer-predisposing syndrome 2016-08-16 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 RCV001030195 SCV002940964 likely benign Familial cancer of breast 2023-04-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001030195 SCV001193056 benign Familial cancer of breast 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz.

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