ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.1041G>A (p.Leu347=)

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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 RCV002976030 SCV003289021 likely benign Hereditary spastic paraplegia 45 2022-10-21 criteria provided, single submitter clinical testing

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