ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3610-20C>G

gnomAD frequency: 0.09345  dbSNP: rs2268427
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243986 SCV000309976 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001579495 SCV001950541 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058148 SCV002389188 benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579495 SCV005242989 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579495 SCV001807463 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000243986 SCV001920691 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243986 SCV001970114 benign not specified no assertion criteria provided clinical testing

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