ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.5853T>A (p.Asp1951Glu)

gnomAD frequency: 0.02451  dbSNP: rs56363411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001669024 SCV001882768 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975858 SCV004789705 benign BLTP1-related disorder 2020-01-31 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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