ClinVar Miner

Submissions for variant NM_003638.3(ITGA8):c.2977A>G (p.Ile993Val)

gnomAD frequency: 0.00743  dbSNP: rs9333241
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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 RCV000959865 SCV001106802 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489346 SCV002804301 likely benign Renal hypodysplasia/aplasia 1 2021-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000959865 SCV005316854 benign not provided criteria provided, single submitter not provided

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