ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.18G>A (p.Gly6=)

dbSNP: rs587782462
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544942 SCV000633311 likely benign Familial cancer of breast 2023-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575984 SCV000666889 likely benign Hereditary cancer-predisposing syndrome 2016-10-10 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 RCV000575984 SCV000690816 likely benign Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing
Counsyl RCV000544942 SCV000786336 likely benign Familial cancer of breast 2018-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497105 SCV002808861 likely benign Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2022-03-30 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000544942 SCV004019183 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.

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