ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)

dbSNP: rs2140205433
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) RCV002248974 SCV003920809 pathogenic Hereditary spastic paraplegia 3A 2023-04-27 criteria provided, single submitter research
Mendelics RCV002248974 SCV002516232 likely pathogenic Hereditary spastic paraplegia 3A 2022-05-04 criteria provided, single submitter clinical testing

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