ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5920C>A (p.Pro1974Thr)

gnomAD frequency: 0.00002  dbSNP: rs1254719758
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) RCV000734807 SCV000862979 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000734807 SCV003829667 uncertain significance not provided 2019-03-17 criteria provided, single submitter clinical testing

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