ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.286+46C>T

gnomAD frequency: 0.43914  dbSNP: rs3922633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673887 SCV001883341 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810208 SCV002057603 benign Hereditary spastic paraplegia 7 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673887 SCV005253198 benign not provided criteria provided, single submitter not provided

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