ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1044C>T (p.Leu348=)

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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 RCV003507560 SCV004246226 likely benign Hereditary spastic paraplegia 7 2023-04-16 criteria provided, single submitter clinical testing

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