ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.678_680dup (p.Asp227dup)

dbSNP: rs1555418424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665528 SCV000789666 uncertain significance Bloom syndrome 2017-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665528 SCV001407761 uncertain significance Bloom syndrome 2019-08-18 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 550709). This variant is not present in population databases (ExAC no frequency). This variant, c.678_680dup, results in the insertion of 1 amino acid(s) to the BLM protein (p.Asp227dup), but otherwise preserves the integrity of the reading frame.

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