ClinVar Miner

Submissions for variant NM_004082.5(DCTN1):c.3516T>G (p.Thr1172=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003327036 SCV004033744 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing DCTN1: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003777367 SCV004578470 likely benign Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B 2023-05-23 criteria provided, single submitter clinical testing

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