ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2834+18A>T

gnomAD frequency: 0.00113  dbSNP: rs114491776
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127299 SCV000170860 benign not specified 2014-06-08 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.
Counsyl RCV000410164 SCV000488934 likely benign Familial cancer of breast 2016-07-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000580996 SCV000685985 likely benign Hereditary cancer-predisposing syndrome 2015-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679767 SCV000807099 likely benign not provided 2017-08-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410164 SCV002460627 benign Familial cancer of breast 2025-02-02 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225410 SCV002504923 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580996 SCV002752629 likely benign Hereditary cancer-predisposing syndrome 2015-01-13 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315854 SCV004016502 benign Breast-ovarian cancer, familial, susceptibility to, 5 2023-07-07 criteria provided, single submitter clinical testing

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