ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6447T>C (p.Val2149=)

gnomAD frequency: 0.00003  dbSNP: rs373110459
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000866314 SCV001007392 likely benign Spastic paraplegia 2024-03-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997419 SCV005621831 likely benign not specified 2024-11-03 criteria provided, single submitter clinical testing

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