ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu)

gnomAD frequency: 0.00133  dbSNP: rs139209033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642225 SCV000763879 benign Vici syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003338710 SCV004059966 likely benign Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004710176 SCV005250095 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918036 SCV004730284 likely benign EPG5-related disorder 2023-04-10 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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