ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.539-17G>A

gnomAD frequency: 0.00110  dbSNP: rs41284118
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512367 SCV001719772 benign Wolman disease 2025-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718844 SCV005319942 benign not provided criteria provided, single submitter not provided

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