ClinVar Miner

Submissions for variant NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=)

gnomAD frequency: 0.00670  dbSNP: rs16860616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000353064 SCV000419398 likely benign Junctional epidermolysis bullosa with pyloric atresia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000968996 SCV001116483 benign not provided 2024-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487467 SCV002803101 likely benign Epidermolysis bullosa, junctional 6, with pyloric atresia 2021-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968996 SCV005257068 likely benign not provided criteria provided, single submitter not provided

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