ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.102G>C (p.Thr34=)

dbSNP: rs199772693
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512117 SCV001719465 benign Diamond-Blackfan anemia 2024-01-25 criteria provided, single submitter clinical testing

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