ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.576C>T (p.Leu192=)

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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 RCV002675760 SCV002986113 likely benign Hereditary spastic paraplegia 28 2022-02-21 criteria provided, single submitter clinical testing

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