ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9972+19A>G

gnomAD frequency: 0.00654  dbSNP: rs77322999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245523 SCV000315182 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245523 SCV000527489 benign not specified 2017-03-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058379 SCV002432909 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-22 criteria provided, single submitter clinical testing

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