ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile) (rs35079654)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710248 SCV000615601 benign not provided 2018-05-16 criteria provided, single submitter clinical testing
Invitae RCV001086821 SCV000649094 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000518098 SCV000716104 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710248 SCV000884654 benign not provided 2018-06-20 criteria provided, single submitter clinical testing

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