ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2725_2751del (p.Gln909_Ala917del)

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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 RCV002899232 SCV003243799 uncertain significance Bloom syndrome 2022-10-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2725_2751del, results in the deletion of 9 amino acid(s) of the BLM protein (p.Gln909_Ala917del), but otherwise preserves the integrity of the reading frame.

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