ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13867C>A (p.Gln4623Lys)

gnomAD frequency: 0.00003  dbSNP: rs201896650
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000334667 SCV000338165 uncertain significance not provided 2015-12-15 criteria provided, single submitter clinical testing

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