ClinVar Miner

Submissions for variant NM_032607.3(CREB3L3):c.544G>A (p.Asp182Asn)

gnomAD frequency: 0.00117  dbSNP: rs140312652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002117918 SCV002402579 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486897 SCV002797522 likely benign Hypertriglyceridemia 2 2021-11-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002117918 SCV005309575 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758216 SCV005345495 likely benign CREB3L3-related disorder 2024-04-05 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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