ClinVar Miner

Submissions for variant NM_001012339.3(DNAJC21):c.1024G>A (p.Val342Met)

gnomAD frequency: 0.00471  dbSNP: rs144600070
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973184 SCV001120925 benign not provided 2021-12-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001572864 SCV002069754 likely benign not specified 2021-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000973184 SCV002497315 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272380 SCV002556592 uncertain significance Bone marrow failure syndrome 3 2021-01-19 criteria provided, single submitter clinical testing The DNAJC21 c.1024G>A variant is classified as VUS due to insufficient evidence to aid classification.. (BA1, PP3)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572864 SCV001797893 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000973184 SCV001972423 likely benign not provided no assertion criteria provided clinical testing

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