ClinVar Miner

Submissions for variant NM_001101648.2(NPC1L1):c.3841G>A (p.Glu1281Lys)

gnomAD frequency: 0.00299  dbSNP: rs217435
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003912123 SCV004719124 benign NPC1L1-related disorder 2019-02-21 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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