ClinVar Miner

Submissions for variant NM_000981.4(RPL19):c.564A>G (p.Leu188=)

dbSNP: rs758902267
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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 RCV001484911 SCV001689335 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002351000 SCV002652330 likely benign Diamond-Blackfan anemia 2022-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003965982 SCV004781757 likely benign RPL19-related disorder 2022-12-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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