ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.987T>C (p.Asn329=)

gnomAD frequency: 0.00001  dbSNP: rs1470771203
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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 RCV001491591 SCV001696192 likely benign Wolman disease 2024-01-12 criteria provided, single submitter clinical testing

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