ClinVar Miner

Submissions for variant NM_058246.4(DNAJB6):c.564C>T (p.Phe188=)

gnomAD frequency: 0.00006  dbSNP: rs145897776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430972 SCV000532348 likely benign not specified 2016-10-19 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.
Eurofins Ntd Llc (ga) RCV000727354 SCV000707804 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085500 SCV001014442 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 2023-12-19 criteria provided, single submitter clinical testing

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