ClinVar Miner

Submissions for variant NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)

gnomAD frequency: 0.00004  dbSNP: rs1478296366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262502 SCV001440406 uncertain significance Marinesco-Sjögren syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Athena Diagnostics Inc RCV001287965 SCV001474737 uncertain significance not provided 2020-08-13 criteria provided, single submitter clinical testing

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