ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.351C>T (p.Leu117=)

gnomAD frequency: 0.00013  dbSNP: rs376353902
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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 RCV002176153 SCV002473341 likely benign Diamond-Blackfan anemia 2022-08-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500377 SCV002804580 likely benign Diamond-Blackfan anemia 9 2022-04-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706420 SCV005225736 likely benign not provided criteria provided, single submitter not provided

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