ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3000T>C (p.Asp1000=)

dbSNP: rs1554099393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546546 SCV000628236 likely benign Hereditary cancer-predisposing syndrome 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000546546 SCV000671764 likely benign Hereditary cancer-predisposing syndrome 2016-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003962472 SCV004776438 likely benign RAD50-related condition 2022-09-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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