ClinVar Miner

Submissions for variant NM_003136.4(SRP54):c.1328-28C>T

gnomAD frequency: 0.07699  dbSNP: rs17510813
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
GeneDx RCV001597647 SCV001831129 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597647 SCV005297281 benign not provided criteria provided, single submitter not provided

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