ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)

gnomAD frequency: 0.00017  dbSNP: rs139004425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722591 SCV000715756 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650284 SCV000772124 likely benign Hereditary spastic paraplegia 54 2024-01-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848985 SCV002104607 uncertain significance Hereditary spastic paraplegia 2019-04-01 criteria provided, single submitter clinical testing

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