ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.24C>A (p.Asn8Lys)

dbSNP: rs28942099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000003349 SCV000787508 uncertain significance Shwachman-Diamond syndrome 1 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance, for Shwachman-Diamond syndrome, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product.
OMIM RCV000003349 SCV000023507 pathogenic Shwachman-Diamond syndrome 1 2003-01-01 no assertion criteria provided literature only

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