ClinVar Miner

Submissions for variant NM_001375462.1(LPP):c.1162C>T (p.Arg388Cys)

gnomAD frequency: 0.00131  dbSNP: rs143828647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000904874 SCV001049424 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958208 SCV004781633 benign LPP-related disorder 2019-08-20 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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