ClinVar Miner

Submissions for variant NM_003579.4(RAD54L):c.604C>T (p.Arg202Cys)

gnomAD frequency: 0.00269  dbSNP: rs28363218
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Oncology Research Center, Barretos Cancer Hospital RCV001374481 SCV001438633 uncertain significance Hereditary breast ovarian cancer syndrome 2020-08-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004691400 SCV005186688 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003908480 SCV004720644 benign RAD54L-related disorder 2019-06-10 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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