ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.221-9C>T

gnomAD frequency: 0.00004  dbSNP: rs746277193
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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 RCV002539047 SCV001011015 likely benign Hereditary spastic paraplegia 54 2024-10-17 criteria provided, single submitter clinical testing

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