ClinVar Miner

Submissions for variant NM_000210.4(ITGA6):c.2245-3dup

dbSNP: rs746830225
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003730923 SCV004523868 benign not provided 2024-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956517 SCV004768184 likely benign ITGA6-related disorder 2020-01-31 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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