ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4888del (p.Ser1630fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003138277 SCV003806543 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2023-01-10 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Laboratory for Genotyping Development, RIKEN RCV003164639 SCV002758331 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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