ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1052-16del

gnomAD frequency: 0.00001  dbSNP: rs757412385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662373 SCV000784767 likely benign Nijmegen breakage syndrome-like disorder 2017-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060792 SCV002478981 likely benign Hereditary cancer-predisposing syndrome 2024-04-15 criteria provided, single submitter clinical testing

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