ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.1923A>G (p.Lys641=)

gnomAD frequency: 0.00001  dbSNP: rs775283927
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000989563 SCV000561117 benign Familial cancer of breast 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570008 SCV000666885 likely benign Hereditary cancer-predisposing syndrome 2016-02-03 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.
Color Diagnostics, LLC DBA Color Health RCV000570008 SCV000685909 likely benign Hereditary cancer-predisposing syndrome 2016-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001721538 SCV000716282 likely benign not provided 2020-05-08 criteria provided, single submitter clinical testing
Mendelics RCV000989563 SCV001140022 likely benign Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316618 SCV004016504 likely benign Breast-ovarian cancer, familial, susceptibility to, 5 2023-07-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987551 SCV004803926 likely benign not specified 2024-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001721538 SCV005213523 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004740249 SCV005342585 likely benign PALB2-related disorder 2020-02-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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