ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1044G>A (p.Met348Ile) (rs184657475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000566370 SCV000672901 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Integrated Genetics/Laboratory Corporation of America RCV000590533 SCV000694472 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing Variant summary: The BLM c.1044G>A (p.Met348Ile) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 28/120196 control chromosomes at a frequency of 0.000233, which does not exceed the estimated maximal expected allele frequency of a pathogenic BLM variant (0.0035355). In addition, one clinical diagnostic laboratory classified this variant as likely benign. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000461960 SCV000555814 benign Bloom syndrome 2017-08-28 criteria provided, single submitter clinical testing

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