ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.64A>G (p.Ile22Val)

gnomAD frequency: 0.00006  dbSNP: rs146092558
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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 RCV001848221 SCV002105820 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543378 SCV003260775 likely benign Mast syndrome 2023-12-24 criteria provided, single submitter clinical testing

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