ClinVar Miner

Submissions for variant NM_001253697.2(ERBIN):c.1845A>C (p.Pro615=)

gnomAD frequency: 0.00024  dbSNP: rs144095070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913809 SCV001058965 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000913809 SCV005299292 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003950792 SCV004756878 likely benign ERBIN-related disorder 2022-03-02 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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