ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.226-1G>A

dbSNP: rs1594574182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993157 SCV001145932 likely pathogenic not provided 2018-09-04 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/276514 chr).

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