ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.6745G>A (p.Val2249Ile)

gnomAD frequency: 0.00004  dbSNP: rs774816936
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
Eurofins Ntd Llc (ga) RCV000730149 SCV000857864 uncertain significance not provided 2017-10-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000730149 SCV003825766 uncertain significance not provided 2021-01-14 criteria provided, single submitter clinical testing

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