ClinVar Miner

Submissions for variant NM_000987.5(RPL26):c.288C>T (p.His96=)

gnomAD frequency: 0.00005  dbSNP: rs573206384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002076044 SCV002428205 likely benign Diamond-Blackfan anemia 2023-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002076044 SCV004001118 likely benign Diamond-Blackfan anemia 2023-06-09 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.

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