ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.630T>C (p.Thr210=)

gnomAD frequency: 0.00001  dbSNP: rs1253166155
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423966 SCV001626556 likely benign Wolman disease 2024-01-28 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820200 SCV005441697 likely benign Lysosomal acid lipase deficiency 2024-05-08 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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