ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.48C>T (p.Thr16=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002781116 SCV003033063 likely benign Wolman disease 2022-03-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545396 SCV004763542 likely benign LIPA-related disorder 2022-05-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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