ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.900A>G (p.Thr300=)

gnomAD frequency: 0.00004  dbSNP: rs771660444
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167125 SCV000217955 likely benign Hereditary cancer-predisposing syndrome 2014-12-03 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.
Invitae RCV000205195 SCV000259725 likely benign Familial cancer of breast 2023-12-26 criteria provided, single submitter clinical testing
Counsyl RCV000205195 SCV000487945 likely benign Familial cancer of breast 2015-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001721087 SCV000566476 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000167125 SCV000906503 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485038 SCV002799278 likely benign Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2022-02-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000205195 SCV004019123 benign Familial cancer of breast 2023-03-30 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004535134 SCV004712762 likely benign PALB2-related disorder 2023-08-30 criteria provided, single submitter 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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