ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.615C>G (p.Ser205=) (rs143930279)

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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 RCV000731120 SCV000858897 uncertain significance not provided 2018-01-02 criteria provided, single submitter clinical testing
Invitae RCV001450085 SCV001048775 likely benign Wolman disease 2020-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001087324 SCV001456943 uncertain significance Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing

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