ClinVar Miner

Submissions for variant NM_001142459.2(ASB10):c.470C>T (p.Ala157Val)

gnomAD frequency: 0.02016  dbSNP: rs77615410
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001664397 SCV001874546 benign not provided 2018-08-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22156576, 27884173, 22798626)
Invitae RCV001664397 SCV002406724 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Casey Eye Institute Glaucoma Genetics Lab RCV000086405 SCV000118551 not provided Glaucoma 1, open angle, F no assertion provided not provided

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