ClinVar Miner

Submissions for variant NM_000981.4(RPL19):c.190C>A (p.Arg64=)

dbSNP: rs2228666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001523358 SCV001733053 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414243 SCV002723269 benign Diamond-Blackfan anemia 2020-02-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001523358 SCV005247438 benign not provided criteria provided, single submitter not provided

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