ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3195T>C (p.Asn1065=)

gnomAD frequency: 0.00001  dbSNP: rs1297274221
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628694 SCV000749600 likely benign Bloom syndrome 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019091 SCV001180405 likely benign Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4 RCV001019091 SCV002530072 likely benign Hereditary cancer-predisposing syndrome 2022-03-07 criteria provided, single submitter curation
Natera, Inc. RCV000628694 SCV002090525 likely benign Bloom syndrome 2020-10-13 no assertion criteria provided clinical testing

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