ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.2756T>G (p.Val919Gly) (rs886041103)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Praenatalmedizin und Genetik Nuernberg RCV000258956 SCV000328936 uncertain significance Familial cancer of breast 2016-11-01 no assertion criteria provided clinical testing i) multiple in silico analyses with pathogenic consent for PALB2-variant ii) CHEK2-del5395 in parallel in affected patient and affected daughter iii) affected daughter did not inherit the PALB2-variant

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