ClinVar Miner

Submissions for variant NM_021020.5(LZTS1):c.1208C>T (p.Thr403Met)

gnomAD frequency: 0.00064  dbSNP: rs141630311
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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 RCV000917037 SCV001062298 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000917037 SCV005266534 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003902963 SCV004718462 benign LZTS1-related disorder 2019-03-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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