ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)

gnomAD frequency: 0.00002  dbSNP: rs121912459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993041 SCV001145742 uncertain significance not provided 2018-11-20 criteria provided, single submitter clinical testing
OMIM RCV000015906 SCV000036173 pathogenic Amyotrophic lateral sclerosis 1, autosomal recessive 2001-02-01 no assertion criteria provided literature only

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