ClinVar Miner

Submissions for variant NM_003638.3(ITGA8):c.483G>A (p.Pro161=)

gnomAD frequency: 0.00556  dbSNP: rs72781816
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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 RCV000964509 SCV001111725 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000964509 SCV004126483 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ITGA8: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000964509 SCV005316885 benign not provided criteria provided, single submitter not provided

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