ClinVar Miner

Submissions for variant NM_006614.4(CHL1):c.1501A>G (p.Thr501Ala)

gnomAD frequency: 0.00233  dbSNP: rs147811720
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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 RCV000972233 SCV001119930 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972233 SCV005261995 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003906037 SCV004724299 benign CHL1-related disorder 2019-06-18 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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