ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.372C>G (p.Thr124=)

gnomAD frequency: 0.00007  dbSNP: rs532740212
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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 RCV000936033 SCV001081793 likely benign Wolman disease 2024-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029634 SCV005033152 likely benign Cardiovascular phenotype 2023-11-10 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.

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