ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1005G>A (p.Val335=)

dbSNP: rs1564748606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731650 SCV000859495 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003598000 SCV004561643 likely benign Wolman disease 2023-07-19 criteria provided, single submitter clinical testing

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