ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.1467G>A (p.Thr489=)

gnomAD frequency: 0.00001  dbSNP: rs368637290
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815681 SCV000956144 likely benign Hereditary spastic paraplegia 45 2024-02-24 criteria provided, single submitter clinical testing

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