ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.366G>A (p.Leu122=)

dbSNP: rs2147822425
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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 RCV002220570 SCV002362541 likely benign Diamond-Blackfan anemia 8 2020-12-18 criteria provided, single submitter clinical testing

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