ClinVar Miner

Submissions for variant NM_006846.4(SPINK5):c.795-11A>G

dbSNP: rs1561685366
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768322 SCV000898991 uncertain significance Netherton syndrome 2021-03-30 criteria provided, single submitter clinical testing SPINK5: NM_006846 exon 10 (c.795-11A>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003762873 SCV003258093 likely benign Ichthyosis linearis circumflexa 2021-12-26 criteria provided, single submitter clinical testing

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