ClinVar Miner

Submissions for variant NM_001353812.2(ATP11C):c.1555T>A (p.Tyr519Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004099401 SCV003569302 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.1564T>A (p.Y522N) alteration is located in exon 15 (coding exon 15) of the ATP11C gene. This alteration results from a T to A substitution at nucleotide position 1564, causing the tyrosine (Y) at amino acid position 522 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003492810 SCV004234549 uncertain significance X-linked congenital hemolytic anemia 2023-05-03 criteria provided, single submitter clinical testing

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