ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2407-7del

dbSNP: rs769184675
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539579 SCV000623269 benign Bloom syndrome 2023-12-09 criteria provided, single submitter clinical testing
Counsyl RCV000539579 SCV000792017 uncertain significance Bloom syndrome 2017-06-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821468 SCV002070157 uncertain significance not specified 2020-03-10 criteria provided, single submitter clinical testing DNA sequence analysis of the BLM gene demonstrated a sequence change in intron 11, c.2407-7del. This change does not appear to have been previously described in patients with BLM-related disorders and has been described in the gnomAD database in eight individuals (dbSNP rs749544427). In silico splice site prediction programs give conflicting results on the effect on splicing of this variant. The functional significance of this sequence change is not known at present and its contribution to a disease phenotype cannot definitively be determined.
Natera, Inc. RCV000539579 SCV002088065 uncertain significance Bloom syndrome 2017-11-16 no assertion criteria provided clinical testing

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