ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.21C>T (p.Arg7=)

gnomAD frequency: 0.00006  dbSNP: rs550636795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288679 SCV001475968 benign not specified 2019-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545181 SCV004779933 likely benign PLEC-related disorder 2019-09-06 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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