ClinVar Miner

Submissions for variant NM_000210.4(ITGA6):c.*204_*205insT

gnomAD frequency: 0.12730  dbSNP: rs61499296
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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 RCV000332266 SCV000419400 likely benign Junctional epidermolysis bullosa with pyloric atresia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001613081 SCV001833822 benign not provided 2021-05-13 criteria provided, single submitter clinical testing

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