ClinVar Miner

Submissions for variant NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)

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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 RCV003784237 SCV004572215 likely benign Multiple mitochondrial dysfunctions syndrome 3; Hereditary spastic paraplegia 74 2023-01-08 criteria provided, single submitter clinical testing

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