ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.714G>A (p.Ala238=) (rs139282720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591044 SCV000706683 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing
Invitae RCV000591044 SCV001024098 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Invitae RCV001456835 SCV001660624 likely benign Wolman disease 2020-02-04 criteria provided, single submitter clinical testing

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