ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu)

gnomAD frequency: 0.00008  dbSNP: rs373354100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728340 SCV000855897 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084943 SCV001018368 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980362 SCV004795671 likely benign DNAJB6-related disorder 2022-03-21 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).

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