ClinVar Miner

Submissions for variant NM_004181.5(UCHL1):c.326-4dup

dbSNP: rs3214812
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001579417 SCV001838622 benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001579417 SCV002481645 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002225137 SCV002503674 benign Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency of 30.7% (rs3214812, 70,785/230,740 alleles in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1 this variant is classified as Benign. Following criteria met: BA1.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579417 SCV001807161 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727905 SCV001972379 benign not specified no assertion criteria provided clinical testing

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