ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2308-5C>T

gnomAD frequency: 0.00001  dbSNP: rs957805754
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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 RCV001015151 SCV001175956 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-17 criteria provided, single submitter clinical testing The c.2308-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 10 in the BLM gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001276026 SCV001694191 likely benign Bloom syndrome 2024-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276026 SCV001461839 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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