ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.43T>C (p.Trp15Arg)

gnomAD frequency: 0.00001  dbSNP: rs758797771
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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) RCV000731044 SCV000858815 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002536457 SCV003474306 likely benign Wolman disease 2024-01-04 criteria provided, single submitter clinical testing

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