ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1411+8T>A

gnomAD frequency: 0.00078  dbSNP: rs201991639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596342 SCV000702494 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000596342 SCV001051727 benign not provided 2024-11-29 criteria provided, single submitter clinical testing
New York Genome Center RCV003227803 SCV003925437 uncertain significance Gallbladder disease 4; Sitosterolemia 1 2022-04-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701680 SCV005202441 uncertain significance not specified 2024-07-27 criteria provided, single submitter clinical testing

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