ClinVar Miner

Submissions for variant NM_007217.4(PDCD10):c.574G>A (p.Val192Ile)

gnomAD frequency: 0.00061  dbSNP: rs151267430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000396088 SCV000442055 uncertain significance Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001406380 SCV001608332 likely benign Cerebral cavernous malformation 3 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957779 SCV004777955 likely benign PDCD10-related disorder 2022-02-22 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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