ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.984C>T (p.Leu328=)

gnomAD frequency: 0.00029  dbSNP: rs368666457
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000713301 SCV000233161 uncertain significance not provided 2014-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000713301 SCV000732882 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000180682 SCV000843891 benign not specified 2019-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088828 SCV001015935 likely benign Marinesco-Sjögren syndrome 2024-11-05 criteria provided, single submitter clinical testing

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