ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.912T>A (p.Ile304=)

gnomAD frequency: 0.00410  dbSNP: rs139393309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417455 SCV000523250 benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000560841 SCV000652454 benign Hereditary spastic paraplegia 54 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848765 SCV002104623 likely benign Hereditary spastic paraplegia 2022-01-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705548 SCV005223398 likely benign not provided criteria provided, single submitter not provided

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