ClinVar Miner

Submissions for variant NM_001011.4(RPS7):c.148-6C>T

gnomAD frequency: 0.00006  dbSNP: rs533287773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820644 SCV002068097 uncertain significance not specified 2020-04-20 criteria provided, single submitter clinical testing DNA sequence analysis of the RPS7 gene demonstrated a sequence change in intron 3, c.148-6C>T. This sequence change has been described in the gnomAD database with a low population frequency of 0.0036% (dbSNP rs533287773). This sequence change is not clearly predicted to have a deleterious effect on splicing based on in silico splice prediction programs. This change does not appear to have been previously described in patients with RPS7-related disorders. The functional significance of this sequence change is not known at present and its contribution to this patient's disease phenotype cannot definitively be determined.
Labcorp Genetics (formerly Invitae), Labcorp RCV002074342 SCV002445532 likely benign Diamond-Blackfan anemia 8 2024-01-02 criteria provided, single submitter clinical testing

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