ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.3204G>T (p.Gly1068=)

dbSNP: rs786203475
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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 RCV000223144 SCV000277691 likely benign Hereditary cancer-predisposing syndrome 2015-08-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000878248 SCV001021115 likely benign Familial cancer of breast 2024-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500737 SCV002805148 likely benign Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3 2021-08-16 criteria provided, single submitter clinical testing

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