ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1566T>A (p.Ser522=)

gnomAD frequency: 0.00001  dbSNP: rs1203606581
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
Invitae RCV000869345 SCV001010763 likely benign Spastic paraplegia 2023-10-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396517 SCV004136819 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SACS: BP4, BP7

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