ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.112-6C>T

gnomAD frequency: 0.00063  dbSNP: rs141302830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177021 SCV000228828 benign not specified 2015-03-26 criteria provided, single submitter clinical testing
Invitae RCV001507211 SCV001122546 benign Wolman disease 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000974702 SCV001261571 benign Lysosomal acid lipase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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