ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)

gnomAD frequency: 0.00001  dbSNP: rs370103461
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992784 SCV001145325 uncertain significance not provided 2018-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549809 SCV002972328 likely benign Spastic paraplegia 2023-08-24 criteria provided, single submitter clinical testing

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