ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.2066C>T (p.Ala689Val)

gnomAD frequency: 0.00214  dbSNP: rs200359990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238685 SCV000297341 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Invitae RCV000948329 SCV001094532 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000948329 SCV004162396 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PCLO: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003967681 SCV004779929 likely benign PCLO-related disorder 2022-11-17 criteria provided, single submitter 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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