ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12854G>A (p.Ser4285Asn)

gnomAD frequency: 0.00006  dbSNP: rs371935764
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847520 SCV002104987 uncertain significance Hereditary spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543360 SCV003480889 likely benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing

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