ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1278C>T (p.Cys426=)

gnomAD frequency: 0.00001  dbSNP: rs1313604330
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
Invitae RCV001442509 SCV001645458 likely benign Legius syndrome 2023-12-13 criteria provided, single submitter clinical testing

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