ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1050C>T (p.Val350=)

gnomAD frequency: 0.00001  dbSNP: rs1249046123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909322 SCV001054120 likely benign Wolman disease 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002400005 SCV002707659 likely benign Cardiovascular phenotype 2021-06-01 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.
Natera, Inc. RCV001832046 SCV002088947 likely benign Lysosomal acid lipase deficiency 2021-04-28 no assertion criteria provided clinical testing

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