ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.204A>G (p.Gly68=)

gnomAD frequency: 0.00015  dbSNP: rs144361698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907041 SCV002178964 likely benign Mast syndrome 2023-07-10 criteria provided, single submitter clinical testing

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