ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.48C>T (p.Pro16=)

gnomAD frequency: 0.00038  dbSNP: rs150583876
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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) RCV000725069 SCV000333732 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551732 SCV000649770 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000401998 SCV000724039 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003930062 SCV004743857 likely benign DNAJB6-related disorder 2019-09-17 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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