ClinVar Miner

Submissions for variant NM_205861.3(DHDDS):c.324-10C>T

gnomAD frequency: 0.00308  dbSNP: rs144459149
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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) RCV000178997 SCV000231184 benign not specified 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV000974771 SCV001122632 benign Retinitis pigmentosa 59 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000178997 SCV001917068 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726024 SCV001966454 likely benign not provided no assertion criteria provided clinical testing

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