ClinVar Miner

Submissions for variant NM_003104.6(SORD):c.806A>C (p.Asn269Thr)

gnomAD frequency: 0.23350  dbSNP: rs930337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001609251 SCV001840420 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810129 SCV002057526 benign Neuronopathy, distal hereditary motor, autosomal recessive 8 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001609251 SCV005290598 benign not provided criteria provided, single submitter not provided

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