ClinVar Miner

Submissions for variant NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)

dbSNP: rs72555383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540896 SCV000631407 benign Combined deficiency of sialidase AND beta galactosidase 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000540896 SCV002808070 likely benign Combined deficiency of sialidase AND beta galactosidase 2021-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979956 SCV004788003 likely benign CTSA-related disorder 2020-07-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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