ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2691+15G>A

gnomAD frequency: 0.00111  dbSNP: rs200394665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455081 SCV000538583 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, does not alter splice consensus
Labcorp Genetics (formerly Invitae), Labcorp RCV001512235 SCV001719616 benign Pityriasis rubra pilaris; Psoriasis 2 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703991 SCV005214256 likely benign not provided criteria provided, single submitter not provided

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