ClinVar Miner

Submissions for variant NM_000344.4(SMN1):c.77G>A (p.Gly26Asp)

gnomAD frequency: 0.00008  dbSNP: rs1170466474
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
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000785798 SCV000924364 likely pathogenic not provided 2016-02-26 criteria provided, single submitter clinical testing

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