ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.342C>T (p.Asp114=)

gnomAD frequency: 0.00005  dbSNP: rs371133960
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735162 SCV000863363 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084387 SCV001027638 likely benign Wolman disease 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458353 SCV002616879 likely benign Cardiovascular phenotype 2022-03-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000735162 SCV004127057 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing LIPA: BP4, BP7
Natera, Inc. RCV001825487 SCV002091466 likely benign Lysosomal acid lipase deficiency 2020-04-07 no assertion criteria provided clinical testing

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