ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11848C>T (p.Leu3950Phe)

gnomAD frequency: 0.00005  dbSNP: rs182154754
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993115 SCV001145857 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000993115 SCV002586154 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing SYNE1: PM2, BP4

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