ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.375T>C (p.Tyr125=)

gnomAD frequency: 0.00002  dbSNP: rs201640343
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000839152 SCV000981034 benign not provided 2018-04-09 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 RCV001088415 SCV001003415 benign Hereditary spastic paraplegia 54 2023-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816919 SCV002066634 benign not specified 2017-11-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849130 SCV002104614 likely benign Hereditary spastic paraplegia 2020-12-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000839152 SCV004164629 benign not provided 2024-05-01 criteria provided, single submitter clinical testing DDHD2: BP4, BP7, BS1, BS2

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