ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.573G>A (p.Lys191=)

gnomAD frequency: 0.00052  dbSNP: rs148927511
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724927 SCV000332482 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000724927 SCV000525355 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000282493 SCV000615274 benign not specified 2017-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085966 SCV001017581 benign Marinesco-Sjögren syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085966 SCV001317592 benign Marinesco-Sjögren syndrome 2017-09-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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