ClinVar Miner

Submissions for variant NM_002204.4(ITGA3):c.929C>T (p.Ala310Val)

gnomAD frequency: 0.00476  dbSNP: rs61730088
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963368 SCV001110519 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963368 SCV004042007 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ITGA3: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000963368 SCV005249891 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000963368 SCV001740896 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000963368 SCV001931274 likely benign not provided no assertion criteria provided clinical testing

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