ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11138_11145del (p.Ser3713fs)

dbSNP: rs1590884711
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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 RCV000993111 SCV001145852 likely pathogenic not provided 2021-02-16 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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