ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1528G>A (p.Gly510Arg)

dbSNP: rs1563311817
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000784988 SCV000923535 uncertain significance Hereditary spastic paraplegia 54 2019-01-01 criteria provided, single submitter clinical testing

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