ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.676-72G>C

gnomAD frequency: 0.00606  dbSNP: rs113450779
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581059 SCV001817755 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827530 SCV002091366 benign Lysosomal acid lipase deficiency 2019-10-18 no assertion criteria provided clinical testing

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