ClinVar Miner

Submissions for variant NM_000969.5(RPL5):c.258T>C (p.Tyr86=) (rs113792800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232035 SCV000285641 benign Diamond-Blackfan anemia 2017-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000232035 SCV000359144 likely benign Diamond-Blackfan anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000428153 SCV000514419 benign not specified 2015-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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