ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2421C>T (p.Ser807=)

dbSNP: rs560856407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282426 SCV000334975 benign not specified 2016-10-05 criteria provided, single submitter clinical testing
GeneDx RCV001697609 SCV000534657 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Invitae RCV000540399 SCV000649629 benign Qualitative or quantitative defects of dysferlin 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000282426 SCV001879878 benign not specified 2021-06-02 criteria provided, single submitter clinical testing

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