ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.63C>T (p.Ser21=)

gnomAD frequency: 0.00003  dbSNP: rs145376788
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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 RCV002094437 SCV002434791 likely benign Diamond-Blackfan anemia 8 2022-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363644 SCV002661170 likely benign Diamond-Blackfan anemia 2021-11-02 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.
Fulgent Genetics, Fulgent Genetics RCV002094437 SCV002812614 likely benign Diamond-Blackfan anemia 8 2022-03-08 criteria provided, single submitter clinical testing

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