ClinVar Miner

Submissions for variant NM_007214.5(SEC63):c.340-6_340-5dup

dbSNP: rs142388422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000387508 SCV000459464 likely benign Polycystic liver disease 1 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950259 SCV004758081 likely benign SEC63-related condition 2020-03-27 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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