ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.428+8T>G

dbSNP: rs554238064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001448496 SCV001651591 likely benign Wolman disease 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277803 SCV001464774 likely benign Lysosomal acid lipase deficiency 2020-04-11 no assertion criteria provided clinical testing

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