ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.2679C>T (p.Cys893=)

gnomAD frequency: 0.00001  dbSNP: rs1253918840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001813092 SCV001473608 likely benign not provided 2020-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537951 SCV003515720 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2022-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001813092 SCV004155066 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DCTN1: BP4, BP7

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