ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.676-23T>C

gnomAD frequency: 0.00011  dbSNP: rs140488274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731177 SCV000858955 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001480060 SCV001684372 likely benign Wolman disease 2022-11-22 criteria provided, single submitter clinical testing

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