ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.2979+8T>C

gnomAD frequency: 0.00019  dbSNP: rs373602123
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000866523 SCV001007632 likely benign Infantile-onset ascending hereditary spastic paralysis 2023-09-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847067 SCV002104806 uncertain significance Hereditary spastic paraplegia 2018-10-01 criteria provided, single submitter clinical testing

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