ClinVar Miner

Submissions for variant NM_000321.3(RB1):c.1248G>A (p.Leu416=)

dbSNP: rs2138136330
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258527 SCV002528287 likely benign Hereditary cancer-predisposing syndrome 2021-11-24 criteria provided, single submitter curation

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