ClinVar Miner

Submissions for variant NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn) (rs1556323334)

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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 RCV000678207 SCV000883186 likely pathogenic HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Hemolytic anemia, congenital, X-linked. 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. PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/26944472).
OMIM RCV000678207 SCV000804209 pathogenic HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED 2018-08-27 no assertion criteria provided literature only

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