ClinVar Miner

Submissions for variant NM_001353812.2(ATP11C):c.1100A>G (p.Lys367Arg)

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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 RCV004205396 SCV003703913 uncertain significance not specified 2021-11-12 criteria provided, single submitter clinical testing The c.1109A>G (p.K370R) alteration is located in exon 12 (coding exon 12) of the ATP11C gene. This alteration results from a A to G substitution at nucleotide position 1109, causing the lysine (K) at amino acid position 370 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143564 SCV003832781 uncertain significance X-linked congenital hemolytic anemia 2023-10-18 criteria provided, single submitter clinical testing

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