ClinVar Miner

Submissions for variant NM_014846.4(WASHC5):c.1876-11T>C

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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 RCV005218682 SCV005851468 likely benign Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 2024-03-13 criteria provided, single submitter clinical testing

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