ClinVar Miner

Submissions for variant NM_000888.5(ITGB6):c.1312G>A (p.Val438Met)

gnomAD frequency: 0.00345  dbSNP: rs61737764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973117 SCV001120856 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290492 SCV002580681 benign Amelogenesis imperfecta type 1H 2022-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973117 SCV004147067 benign not provided 2022-08-01 criteria provided, single submitter clinical testing ITGB6: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000973117 SCV005239053 benign not provided criteria provided, single submitter not provided

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