ClinVar Miner

Submissions for variant NM_001776.6(ENTPD1):c.1014C>T (p.Cys338=)

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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 RCV005116886 SCV005747079 likely benign Hereditary spastic paraplegia 64 2024-03-30 criteria provided, single submitter clinical testing

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