ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.14620A>G (p.Thr4874Ala)

gnomAD frequency: 0.03913  dbSNP: rs10017270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001636536 SCV001852550 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921289 SCV004729846 benign BLTP1-related disorder 2019-03-19 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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