ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.1029+7G>A

gnomAD frequency: 0.00008  dbSNP: rs371041584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082148 SCV000114094 uncertain significance not provided 2013-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513845 SCV003242967 likely benign Marinesco-Sjögren syndrome 2025-01-05 criteria provided, single submitter clinical testing

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