ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.615C>G (p.Ser205=)

dbSNP: rs143930279
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731120 SCV000858897 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001450085 SCV001048775 likely benign Wolman disease 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352248 SCV002660372 likely benign Cardiovascular phenotype 2020-06-29 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. RCV001087324 SCV001456943 uncertain significance Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing

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