ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2040C>T (p.Ser680=)

gnomAD frequency: 0.00009  dbSNP: rs142115704
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081167 SCV000629458 likely benign Spastic paraplegia 2024-01-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000541304 SCV001145319 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000541304 SCV004136818 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SACS: BP4, BP7

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