ClinVar Miner

Submissions for variant NM_001353812.2(ATP11C):c.1161A>T (p.Glu387Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143599 SCV003832775 uncertain significance X-linked congenital hemolytic anemia 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246100 SCV004910010 uncertain significance not specified 2023-12-26 criteria provided, single submitter clinical testing The c.1170A>T (p.E390D) alteration is located in exon 12 (coding exon 12) of the ATP11C gene. This alteration results from a A to T substitution at nucleotide position 1170, causing the glutamic acid (E) at amino acid position 390 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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