ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2923-7T>C

gnomAD frequency: 0.00001  dbSNP: rs1329253830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662886 SCV000785797 likely benign Nijmegen breakage syndrome-like disorder 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV001491882 SCV001696486 likely benign Hereditary cancer-predisposing syndrome 2023-07-06 criteria provided, single submitter clinical testing

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