ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)

gnomAD frequency: 0.00243  dbSNP: rs145419117
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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) RCV000387146 SCV000337968 benign not specified 2015-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000526718 SCV000640944 benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001546231 SCV001765718 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001546231 SCV005256640 likely benign not provided criteria provided, single submitter not provided

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