ClinVar Miner

Submissions for variant NM_152328.5(ADSS1):c.585-42A>G

gnomAD frequency: 0.59250  dbSNP: rs3803307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001549255 SCV001769375 benign Myopathy, distal, 5 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715511 SCV005296701 benign not provided criteria provided, single submitter not provided

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