ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.831G>A (p.Val277=)

gnomAD frequency: 0.00001  dbSNP: rs746566896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001408303 SCV001610301 likely benign Wolman disease 2018-09-11 criteria provided, single submitter clinical testing

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