ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.558G>A (p.Thr186=)

gnomAD frequency: 0.00029  dbSNP: rs149994413
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720240 SCV000526684 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546926 SCV000652450 likely benign Hereditary spastic paraplegia 54 2024-01-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821185 SCV002071502 likely benign not specified 2020-10-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848775 SCV002104620 likely benign Hereditary spastic paraplegia 2020-07-01 criteria provided, single submitter clinical testing

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