ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1012+619C>A

gnomAD frequency: 0.00343  dbSNP: rs192493244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001556297 SCV001777852 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072085 SCV002468356 benign Hereditary spastic paraplegia 28 2024-12-23 criteria provided, single submitter clinical testing

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