ClinVar Miner

Submissions for variant NM_002295.6(RPSA):c.134-32C>T

gnomAD frequency: 0.26547  dbSNP: rs3772138
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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 RCV001794922 SCV002033769 benign Familial isolated congenital asplenia 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709166 SCV005238817 benign not provided criteria provided, single submitter not provided

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