ClinVar Miner

Submissions for variant NM_001031803.2(LLGL2):c.2230G>A (p.Ala744Thr)

gnomAD frequency: 0.00643  dbSNP: rs148020757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948455 SCV001094666 benign not provided 2018-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000948455 SCV004699452 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LLGL2: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000948455 SCV005251794 benign not provided criteria provided, single submitter not provided

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