ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.81G>A (p.Lys27=)

gnomAD frequency: 0.00205  dbSNP: rs149279535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590569 SCV001825694 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001590569 SCV002495434 benign not provided 2023-10-16 criteria provided, single submitter clinical testing

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