ClinVar Miner

Submissions for variant NM_000987.5(RPL26):c.153G>A (p.Lys51=)

gnomAD frequency: 0.00002  dbSNP: rs759269888
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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 RCV000809374 SCV000949524 likely benign Diamond-Blackfan anemia 2023-08-04 criteria provided, single submitter clinical testing

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