ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)

gnomAD frequency: 0.00006  dbSNP: rs369629509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543071 SCV000623298 benign Bloom syndrome 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018398 SCV001179632 likely benign Hereditary cancer-predisposing syndrome 2024-11-09 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.
Natera, Inc. RCV000543071 SCV002090511 uncertain significance Bloom syndrome 2018-08-31 no assertion criteria provided clinical testing

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