ClinVar Miner

Submissions for variant NM_020919.4(ALS2):c.1145_1150del (p.His382_Ser383del)

dbSNP: rs750812960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848403 SCV002104606 uncertain significance Hereditary spastic paraplegia 2020-07-01 criteria provided, single submitter clinical testing

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