ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3012_3014dup (p.Ile1005_Met1006insIle)

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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 RCV002847174 SCV003224647 uncertain significance Bloom syndrome 2022-07-25 criteria provided, single submitter clinical testing This variant, c.3012_3014dup, results in the insertion of 1 amino acid(s) of the BLM protein (p.Ile1005dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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.

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