ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.112-304G>A

gnomAD frequency: 0.37475  dbSNP: rs2246833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000844475 SCV000986526 benign not provided 2018-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515736 SCV001723876 benign Wolman disease 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000844475 SCV005319946 benign not provided criteria provided, single submitter not provided

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