ClinVar Miner

Submissions for variant NM_001142459.2(ASB10):c.619G>C (p.Val207Leu)

gnomAD frequency: 0.00166  dbSNP: rs104886474
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001498843 SCV001703596 likely benign not provided 2023-09-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001498843 SCV004156972 benign not provided 2023-08-01 criteria provided, single submitter clinical testing ASB10: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915009 SCV004733797 likely benign ASB10-related condition 2024-01-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000043658 SCV000071680 pathogenic Glaucoma 1, open angle, F 2012-03-15 no assertion criteria provided literature only
Casey Eye Institute Glaucoma Genetics Lab RCV000043658 SCV000118558 not provided Glaucoma 1, open angle, F no assertion provided not provided

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